Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Aagaard Nolting L, Holling T, Nishimura G, Ek J, Bak M, Ljungberg M, Kutsche K, Hove H
CLIN GENET. 2024;106(3):360-366.

Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1
Barroso M, Puchwein-Schwepcke A, Buettner L, Goebel I, Küchler K, Muntau A, Delgado A, Garcia-Collazo A, Martinell M, Barril X, Cubero E, Gersting S
J MED CHEM. 2024;67(19):17087-17100.

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome
Bonde L, Abdelrazek I, Seif L, Alawi M, Matrawy K, Nabil K, Abdalla E, Kutsche K, Harms F
J HUM GENET. 2024 [Epub ahead of print].

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor R, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis N, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven A, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr J, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M
GENET MED. 2024;26(2):.

Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death
Claus J, Schoof L, Mir T, Kammal A, Schön G, Kutsche K, Behrendt C, Kallenbach K, Kölbel T, Kubisch C, Demal T, Petersen J, Brickwedel J, Hübler M, Detter C, Kirchhof P, Debus E, Rybczynski M, von Kodolitsch Y
J THORAC CARDIOV SUR. 2024 [Epub ahead of print].

PSA-density, DRE, and PI-RADS 5: potential surrogates for omitting biopsy?
Falkenbach F, Ambrosini F, Kachanov M, Ortner G, Maurer T, Köhler D, Beyersdorff D, Graefen M, Budäus L
WORLD J UROL. 2024;42(1):182.

Size of lymph-node metastases in prostate cancer patients undergoing radical prostatectomy: implication for imaging and oncologic follow-up of 2705 lymph-node positive patients
Falkenbach F, Kachanov M, Leyh-Bannurah S, Maurer T, Knipper S, Köhler D, Graefen M, Sauter G, Budäus L
WORLD J UROL. 2024;42(1):.

Germline mutations in a G protein identify signaling cross-talk in T cells
Ham H, Jing H, Lamborn I, Kober M, Koval A, Berchiche Y, Anderson D, Druey K, Mandl J, Isidor B, Ferreira C, Freeman A, Ganesan S, Karsak M, Mustillo P, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler A, Schmid J, Kuhns D, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal P, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember K, Vill K, Potocki L, Olivier K, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos N, Matthews H, Simons C, Taft R, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink D, Kong H, Kabat J, Kim W, Bierhals T, Meguro K, Hsu A, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts V, Stratakis C, Rodriguez-Quevedo M, Bruel A, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan K, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha R, Casanova J, Makitie O, Kubisch C, Edery P, Christodoulou J, Germain R, Goodnow C, Sakmar T, Billadeau D, Küry S, Katanaev V, Zhang Y, Lenardo M, Su H
SCIENCE. 2024;385(6715):eadd8947.

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
Harms F, Rexach J, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena L, Kalfa T, Chard M, Klassen M, Pries M, Kutsche K
EUR J HUM GENET. 2024;32(5):558-566.

Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans
Hassani Nia F, Woike D, Bento I, Niebling S, Tibbe D, Schulz K, Hirnet D, Skiba M, Hönck H, Veith K, Günther C, Scholz T, Bierhals T, Driemeyer J, Bend R, Failla A, Lohr C, Alai M, Kreienkamp H
MOL PSYCHIATR. 2024;29(6):1683-1697.

Complex structural variation and nonsense variant in trans cause VPS50-related disorder
Hecher L, Gorski-Alberts E, Begemann M, Herwig J, Lausberg E, Hillebrand G, Volk A, Kurth I, Kraft F, Kutsche K
J MED GENET. 2024;61(9):833-838.

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
Hinić S, Cybulski C, Van der Post R, Vos J, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams W, Kets C, Haadsma M, Spruijt L, Wevers M, Evans D, Wimmer K, Schnaiter S, Volk A, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong M, Vaz F, Mensenkamp A, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer R
GENET MED. 2024;26(5):.

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
Holling T, Abdelrazek I, Elhady G, Abd Elmaksoud M, Ryu S, Abdalla E, Kutsche K
J HUM GENET. 2024 [Epub ahead of print].

Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers
Hüper L, Steinacker P, Polyakova M, Mueller K, Godulla J, Herzig S, Danek A, Engel A, Diehl-Schmid J, Classen J, Fassbender K, Fliessbach K, Jahn H, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Oeckl P, Prudlo J, Saur D, Anderl-Straub S, Synofzik M, Wagner M, Wiltfang J, Winkelmann J, Volk A, , Huppertz H, Otto M, Schroeter M
ALZHEIMERS DEMENT. 2024;20(7):4461-4475.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Kaiyrzhanov R, Rad A, Lin S, Bertoli-Avella A, Kallemeijn W, Godwin A, Zaki M, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand E, Rudnik-Schöneborn S, Schatz U, Baggelaar M, Ilyas M, Sultan T, Alvi J, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu S, Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed B, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço C, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha M, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya J, Taylor R, Vazquez D, Vetro A, Waterham H, Zaman M, Schrader T, Chung W, Guerrini R, Lupski J, Gleeson J, Suri M, Jamshidi Y, Bhatia K, Vona B, Schrader M, Severino M, Guille M, Tate E, Varshney G, Houlden H, Maroofian R
BRAIN. 2024;147(4):1436–1456.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon M, van Jaarsveld R, Oegema R, van Gassen K, Holwerda S, Barakat T, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi M, Striano P, Iacomino M, Chae J, Jang S, Kim S, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini E, Radio F, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad N, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S
AM J HUM GENET. 2024;111(6):1206-1221.

Multimodal characterization of dilated cardiomyopathy: Geno- And Phenotyping of PrImary Cardiomyopathy (GrAPHIC)
Keil L, Berisha F, Ritter S, Skibowski J, Subramanian H, Nikolaev V, Kubisch C, Woitschach R, Fabritz L, Twerenbold R, Blankenberg S, Weidemann S, Zeller T, Kirchhof P, Reichart D, Magnussen C
ESC HEART FAIL. 2024;11(1):541-549.

Genetic landscape of pediatric acute liver failure of indeterminate origin
Lenz D, Schlieben L, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut N, Brugger M, Brunet T, Bufler P, Burnytė B, Calvo P, Crushell E, Dalgıç B, Das A, Dezsőfi A, Distelmaier F, Fichtner A, Freisinger P, Garbade S, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kırsaçlıoğlu C, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloğlu Z, Kuster A, Laass M, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr J, McKiernan P, McLean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petković Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor R, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel G, Wagner M, van der Woerd W, Wortmann S, Zakharova E, Hoffmann G, Meitinger T, Murayama K, Staufner C, Prokisch H
HEPATOLOGY. 2024;79(5):1075-1087.

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype
Papingi D, Bierhals T, Volk A, Kutsche M, Paul K, Herget T
AM J MED GENET A. 2024;194(5):e63515.

Intergenic risk variant rs56258221 skews the fate of naive CD4+ T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis
Poch T, Bahn J, Casar C, Krause J, Evangelakos I, Gilladi H, Kunzmann L, Laschtowitz A, Iuso N, Schäfer A, Liebig L, Steinmann S, Sebode M, Folseraas T, Engesæter L, Karlsen T, Franke A, Metabolic Sciences, Max Delbrück Centre for Molecular Medicine in the Helmholtz Association C, Schlein C, Galun E, Huber S, Lohse A, Gagliani N, Schwinge D, Schramm C
CELL REP MED. 2024;5(7):101620.

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Rinaldi B, Bayat A, Zachariassen L, Sun J, Ge Y, Zhao D, Bonde K, Madsen L, Awad I, Bagiran D, Sbeih A, Shah S, El-Sayed S, Lyngby S, Pedersen M, Stenum-Berg C, Walker L, Krey I, Delahaye-Duriez A, Emrick L, Sully K, Murali C, Burrage L, Plaud Gonzalez J, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi M, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch S, Au P, Ayala Valenzuela F, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li W, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller R, Tümer Z, Musgaard M, Gerard B, Lemke J, Shi Y, Kristensen A
BRAIN. 2024;147(5):1837-1855.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel H, Schwartzmann S, Mensah M, Pantel J, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter A, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl A, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott C, Schülke M, Nguyen H, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz R, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec A, Karakostas P, Schäfer V, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin M, Incardona P, Lee-Kirsch M, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke A, Kaiser F, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold E, Schaaf C, Zawada M, Kaufmann L, Hinderhofer K, Okun P, Kotzaeridou U, Hoffmann G, Choukair D, Bettendorf M, Spielmann M, Ripke A, Pauly M, Münchau A, Lohmann K, Hüning I, Hanker B, Bäumer T, Herzog R, Hellenbroich Y, Westphal D, Strom T, Kovacs R, Riedhammer K, Mayerhanser K, Graf E, Brugger M, Hoefele J, Oexle K, Mirza-Schreiber N, Berutti R, Schatz U, Krenn M, Makowski C, Weigand H, Schröder S, Rohlfs M, Vill K, Hauck F, Borggraefe I, Müller-Felber W, Kurth I, Elbracht M, Knopp C, Begemann M, Kraft F, Lemke J, Hentschel J, Platzer K, Strehlow V, Abou Jamra R, Kehrer M, Demidov G, Beck-Wödl S, Graessner H, Sturm M, Zeltner L, Schöls L, Magg J, Bevot A, Kehrer C, Kaiser N, Turro E, Horn D, Grüters-Kieslich A, Klein C, Mundlos S, Nöthen M, Riess O, Meitinger T, Krude H, Krawitz P, Haack T, Ehmke N, Wagner M
NAT GENET. 2024;56(8):1644-1653.

The Shank/ProSAP N-Terminal (SPN) Domain of Shank3 Regulates Targeting to Postsynaptic Sites and Postsynaptic Signaling
Woike D, Tibbe D, Hassani Nia F, Martens V, Wang E, Barsukov I, Kreienkamp H
MOL NEUROBIOL. 2024;61(2):693-706.

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
Worthmann A, Ridder J, Piel S, Evangelakos I, Musfeldt M, Voß H, O'Farrell M, Fischer A, Adak S, Sundd M, Siffeti H, Haumann F, Kloth K, Bierhals T, Heine M, Pertzborn P, Pauly M, Scholz J, Kundu S, Fuh M, Neu A, Tödter K, Hempel M, Knippschild U, Semenkovich C, Schlüter H, Heeren J, Scheja L, Kubisch C, Schlein C
NAT COMMUN. 2024;15(1):45.

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
Abdelrazek I, Holling T, Harms F, Alawi M, Omar T, Abdalla E, Kutsche K
EUR J MED GENET. 2023;66(3):104715.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Aerden M, Denommé-Pichon A, Bonneau D, Bruel A, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard P, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray F, Bramswig N, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring P, Renieri A, Bruno L, Õunap K, Wojcik M, Hsieh T, Krawitz P, Van Esch H
EUR J HUM GENET. 2023;31(4):461-468.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
Arribas-Carreira L, Dallabona C, Swanson M, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence N, Magistrati M, Spector E, Kronquist K, Christensen M, Karstensen H, Feichtinger R, Achleitner M, Lawrence Merritt J, Pérez B, Ugarte M, Grünewald S, Riela A, Julve N, Arnoux J, Haldar K, Donnini C, Santer R, Lund A, Mayr J, Rodriguez-Pombo P, Van Hove J
HUM MOL GENET. 2023;32(6):917-933.

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy R, Fujiwara M, Chaves B, Schoppmeyer R, van der Made C, Jimenez Heredia R, Harms F, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner A, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner H, Nooitgedagt-Frons J, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa J, Pickl W, Distel M, Yoder J, Traver D, Engelhardt K, Linden T, Kager L, Hannich J, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul J, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K
NEW ENGL J MED. 2023;389(6):527-539.

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
Chepurwar S, von Loh S, Wigger D, Neef J, Frommolt P, Beutner D, Lang-Roth R, Kubisch C, Strenzke N, Volk A
HUM MOL GENET. 2023;32(7):1083-1089.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya F, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel A, Brusco A, Bubshait D, Cabrol C, Cilio M, Cornet M, Coubes C, Danhaive O, Delague V, Denommé-Pichon A, Di Giacomo M, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson J, Heron D, Goffeney J, Guimier A, Harms F, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani E, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow J, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente E, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki M, Zara F, Lesca G, Yassaee V, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J
EUR J HUM GENET. 2023;31(9):1023-1031.

Biochemie hoch2: und Molekularbiologie 2. Auflage
Hampe W, Fluhrer R, Kouz K, Averbeck B, Dankwardt A, Duszenko M, Eberharter A, Harter C, Höppner S, Kindler S, Korber P, Kreienkamp H, Neumann S, Nielsen P, Salat D, Schling P, Unterleitner C, Wild-Bode C
2023.

de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Harms F, Dingemans A, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer J, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini G, van Slegtenhorst M, Barakat T, Wakeling E, Kamath A, Downie L, Pais L, White S, de Vries B, Kutsche K
GENET MED. 2023;25(10):100927.

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
Harms F, Weiss D, Lisfeld J, Alawi M, Kutsche K
NEUROGENETICS. 2023;24(3):171-180.

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
Hecher L, Harms F, Lisfeld J, Alawi M, Denecke J, Kutsche K
NEUROGENETICS. 2023;24(2):79-93.

TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans
Holling T, Brylka L, Scholz T, Bierhals T, Herget T, Meinecke P, Schinke T, Oheim R, Kutsche K
J BONE MINER RES. 2023;38(9):1334-1349.

Targeted Multiparametric Magnetic Resonance Imaging/Ultrasound Fusion Biopsy for Quantitative Gleason 4 Grading Prediction in Radical Prostatectomy Specimens: Implications for Active Surveillance Candidate Selection
Kachanov M, Budäus L, Beyersdorff D, Karakiewicz P, Tian Z, Falkenbach F, Tilki D, Maurer T, Sauter G, Graefen M, Leyh-Bannurah S
EUR UROL FOCUS. 2023;9(2):303-308.

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Khazaei S, Chen C, Andrade A, Kabir N, Azarafshar P, Morcos S, França J, Lopes M, Lund P, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong C, Bryant L, Hébert S, Tong B, Sihota T, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada E, Jerome-Majewska L, Ellezam B, Gomes C, Denecke J, Lessel D, McDonald M, Pizoli C, Taylor K, Cocanougher B, Bhoj E, Gingras A, Garcia B, Lu C, Campos E, Kleinman C, Garzia L, Jabado N
CELL. 2023;186(6):1162-1178.e20.

Further Association of Germline CHEK2 Loss-of-Function Variants with Testicular Germ Cell Tumors
Kirchner K, Seidel C, Paulsen F, Sievers B, Bokemeyer C, Lessel D
J CLIN MED. 2023;12(22):.

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss A, Sieckmann T, Lai E, Connaughton D, Seltzsam S, Mann N, Majmundar A, Wu C, Onuchic-Whitford A, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia M, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton R, Kirschner K, Kispert A, Rosenberger G, Fischer K, Lienkamp S, Zegers M, Hildebrandt F
J AM SOC NEPHROL. 2023;34(2):273-290.

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract
Kolvenbach C, Zheng B, Merz L, Mertens N, Mansour B, Wang C, Seltzsam S, Schneider S, Schierbaum L, Pantel D, Chen J, van der Ven A, Bello J, Shril S, Hildebrandt F
AM J MED GENET A. 2023;191(5):1355-1359.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff J, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr E, Gowda V, Srinivasan V, Bakhtiari S, Kruer M, Salih M, Kuechler A, Muller E, Blocker K, Kuismin O, Park K, Kochhar A, Brown K, Ramanathan S, Clark R, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa G, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra R, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim A, Abdulwahab F, Alkuraya F, Khouj E, Alvi J, Sultan T, Hashemi N, Karimiani E, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C
GENET MED. 2023;25(8):100885.

Klimawandel und Kindergesundheit – Ein Aufruf zum Handeln: Statement des Netzwerks #gemeinsamstarkfürkinder
Lorenz S, Krey I, Harms F, Freiseis A, Schmid F, Pokora R, Stamos K, Kohlfürst D, Albertowski A
MONATSSCHR KINDERH. 2023;171:63–71.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
Mah-Som A, Daw J, Huynh D, Wu M, Creekmore B, Burns W, Skinner S, Holla Ø, Smeland M, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah M, Sczakiel H, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth C, Pena L, Ramsey K, Narayanan V, Seaver L, Rodriguez D, Afenjar A, Burglen L, Lee E, Chou T, Weihl C, Shinawi M
AM J HUM GENET. 2023;110(11):1959-1975.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
Mensah M, Niskanen H, Magalhaes A, Basu S, Kircher M, Sczakiel H, Reiter A, Elsner J, Meinecke P, Biskup S, Chung B, Dombrowsky G, Eckmann-Scholz C, Hitz M, Hoischen A, Holterhus P, Hülsemann W, Kahrizi K, Kalscheuer V, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt A, Moritz J, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar M, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D
NATURE. 2023;614(7948):564-571.

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study
Mund M, Uhlenbusch N, Rillig F, Weiler-Normann C, Herget T, Kubisch C, Löwe B, Schramm C
ORPHANET J RARE DIS. 2023;18(1):82.

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes
Nauth T, Bazgir F, Voß H, Brandenstein L, Mosaddeghzadeh N, Rickassel V, Deden S, Gorzelanny C, Schlüter H, Ahmadian M, Rosenberger G
HUM MOL GENET. 2023;32(2):304-318.

Relationship of serum beta-synuclein with blood biomarkers and brain atrophy
Oeckl P, Anderl-Straub S, Danek A, Diehl-Schmid J, Fassbender K, Fliessbach K, Halbgebauer S, Huppertz H, Jahn H, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Prudlo J, Schneider A, Schroeter M, Steinacker P, Volk A, Wagner M, Winkelmann J, Wiltfang J, Ludolph A, Otto M
ALZHEIMERS DEMENT. 2023;19(4):1358-1371.

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Park J, Nordström U, Tsiakas K, Keskin I, Elpers C, Mannil M, Heller R, Nolan M, Alburaiky S, Zetterström P, Hempel M, Schara-Schmidt U, Biskup S, Steinacker P, Otto M, Weishaupt J, Hahn A, Santer R, Marquardt T, Marklund S, Andersen P
BRAIN COMMUN. 2023;5(1):fcad017.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
Patterson V, Ullah F, Bryant L, Griffin J, Sidhu A, Saliganan S, Blaile M, Saenz M, Smith R, Ellingwood S, Grange D, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer K, Seitz B, Robin N, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson C, Tran Mau-Them F, Vitobello A, Bruel A, Sorlin A, Mehta S, Raymond F, Gilmore K, Powell B, Weck K, Li C, Vulto-van Silfhout A, Giacomini T, Mancardi M, Accogli A, Salpietro V, Zara F, Vora N, Davis E, Burdine R, Bhoj E
SCI ADV. 2023;9(17):eade0631.

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
Postma A, Rapp C, Knoflach K, Volk A, Lemke J, Ackermann M, Regamey N, Latzin P, Celant L, Jansen S, Bogaard H, Ilgun A, Alders M, van Spaendonck-Zwarts K, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling A, Griese M
Genetics in medicine open. 2023;1(1):100811.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, de Vries B, van Jaarsveld R, Hopman S, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz J, Andersen C, Kibæk M, Prijoles E, Stevenson R, Everman D, Patterson W, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke P, Lopez Garcia M, Perrier R, Sousa S, Almeida P, Simões M, Isidor B, Deb W, Schmanski A, Abdul-Rahman O, Philippe C, Bruel A, Faivre L, Vitobello A, Thauvin C, Smits J, Garavelli L, Caraffi S, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann A, Stumpel C, Tiller G, Bosch D, Potgieter S, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti A, Freitag C, Satterstrom F, De Rubeis S, Buxbaum J, Gelb B, Branko A, Kushima I, Howe J, Scherer S, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli F, Haack T, Dufke A, Bertrand M, Falb R, Rieß A, Krieg P, Spranger S, Bedeschi M, Iascone M, Josephi-Taylor S, Roscioli T, Buckley M, Liebelt J, Dagli A, Aten E, Hurst A, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G, Küpper H, Petit F, Ibrahim V, Top D, Di Cara F, , Louie R, Stolerman E, Brunner H, Vissers L, Kramer J, Kleefstra T
AM J HUM GENET. 2023;110(6):963-978.

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
Saadi A, Navarro C, Ozalp O, Lourenco C, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha L, Chaouch M, Lessel D, De Sandre-Giovannoli A
AM J MED GENET A. 2023;191(9):2274-2289.

Nachweis einer hereditären hämorrhagischen Teleangiektasie (Morbus Osler) bei singulärer pulmonaler arteriovenöser Malformation
Schick-Bengardt X, Kachanov M, Bannas P, Galow S, Klose H, Woitschach R, Schönnagel B, Oqueka T
PNEUMOLOGIE. 2023;77(Suppl 01):S33.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz M, Ambrosone C, Apostolou P, Arun B, Auer P, Barnard M, Bertelsen B, Blok M, Boddicker N, Brunet J, Burnside E, Calvello M, Campbell I, Chan S, Chen F, Chiang J, Coppa A, Cortesi L, Crujeiras-González A, De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans D, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García E, González S, Haiman C, Hansen T, Hauke J, Hodge J, Hu C, Huang H, Ishak N, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim W, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro A, Mori L, Nathanson K, Neuhausen S, Nevanlinna H, Olson J, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson M, Rosseel T, Ruddy K, Santamariña M, Dos Santos E, Teras L, Toland A, Trentham-Dietz A, Vachon C, Volk A, Weber-Lassalle N, Weitzel J, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang Z, Zima T, Spurdle A, Vega A, Rossing M, Del Valle J, De Nicolo A, Hahnen E, Claes K, Ngeow J, , Momozawa Y, James P, Couch F, Macurek L, Kleibl Z
CLIN CANCER RES. 2023;29(16):3037-3050.

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Terhal P, Venhuizen A, Lessel D, Tan W, Alswaid A, Grün R, Alzaidan H, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein R, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice M, Kornak U
AM J HUM GENET. 2023;110(9):1470-1481.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven A, Cabrera-Orefice A, Wente I, Feichtinger R, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr J, Hempel M, Wittig I
MOL GENET METAB. 2023;140(3):107675.

AATD as a genetic risk factor for aneurysmal disease - Authors' reply
von Kodolitsch Y, Kubisch C, Carrel T
LANCET. 2023;402(10413):1626.

Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia
Wagner J, Al-Bazaz M, Forstreuter A, Hammada M, Hille J, Papingi D, Bokemeyer C, Fiedler W
BIOMEDICINES. 2023;12(1):.

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Wang A, Shen J, Rodriguez A, Saunders E, Chen F, Janivara R, Darst B, Sheng X, Xu Y, Chou A, Benlloch S, Dadaev T, Brook M, Plym A, Sahimi A, Hoffman T, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Laisk T, Figuerêdo J, Muir K, Ito S, Liu X, Uchio Y, Kubo M, Kamatani Y, Lophatananon A, Wan P, Andrews C, Lori A, Choudhury P, Schleutker J, Tammela T, Sipeky C, Auvinen A, Giles G, Southey M, MacInnis R, Cybulski C, Wokolorczyk D, Lubinski J, Rentsch C, Cho K, Mcmahon B, Neal D, Donovan J, Hamdy F, Martin R, Nordestgaard B, Nielsen S, Weischer M, Bojesen S, Røder A, Stroomberg H, Batra J, Chambers S, Horvath L, Clements J, Tilly W, Risbridger G, Gronberg H, Aly M, Szulkin R, Eklund M, Nordstrom T, Pashayan N, Dunning A, Ghoussaini M, Travis R, Key T, Riboli E, Park J, Sellers T, Lin H, Albanes D, Weinstein S, Cook M, Mucci L, Giovannucci E, Lindstrom S, Kraft P, Hunter D, Penney K, Turman C, Tangen C, Goodman P, Thompson I, Hamilton R, Fleshner N, Finelli A, Parent M, Stanford J, Ostrander E, Koutros S, Beane Freeman L, Stampfer M, Wolk A, Håkansson N, Andriole G, Hoover R, Machiela M, Sørensen K, Borre M, Blot W, Zheng W, Yeboah E, Mensah J, Lu Y, Zhang H, Feng N, Mao X, Wu Y, Zhao S, Sun Z, Thibodeau S, McDonnell S, Schaid D, West C, Barnett G, Maier C, Schnoeller T, Luedeke M, Kibel A, Drake B, Cussenot O, Cancel-Tassin G, Menegaux F, Truong T, Koudou Y, John E, Grindedal E, Maehle L, Khaw K, Ingles S, Stern M, Vega A, Gómez-Caamaño A, Fachal L, Rosenstein B, Kerns S, Ostrer H, Teixeira M, Paulo P, Brandão A, Watya S, Lubwama A, Bensen J, Butler E, Mohler J, Taylor J, Kogevinas M, Dierssen-Sotos T, Castaño-Vinyals G, Cannon-Albright L, Teerlink C, Huff C, Pilie P, Yu Y, Bohlender R, Gu J, Strom S, Multigner L, Blanchet P, Brureau L, Kaneva R, Slavov C, Mitev V, Leach R, Brenner H, Chen X, Holleczek B, Schöttker B, Klein E, Hsing A, Kittles R, Murphy A, Logothetis C, Kim J, Neuhausen S, Steele L, Ding Y, Isaacs W, Nemesure B, Hennis A, Carpten J, Pandha H, Michael A, De Ruyck K, De Meerleer G, Ost P, Xu J, Razack A, Lim J, Teo S, Newcomb L, Lin D, Fowke J, Neslund-Dudas C, Rybicki B, Gamulin M, Lessel D, Kulis T, Usmani N, Abraham A, Singhal S, Parliament M, Claessens F, Joniau S, Van den Broeck T, Gago-Dominguez M, Castelao J, Martinez M, Larkin S, Townsend P, Aukim-Hastie C, Bush W, Aldrich M, Crawford D, Srivastava S, Cullen J, Petrovics G, Casey G, Wang Y, Tettey Y, Lachance J, Tang W, Biritwum R, Adjei A, Tay E, Truelove A, Niwa S, Yamoah K, Govindasami K, Chokkalingam A, Keaton J, Hellwege J, Clark P, Jalloh M, Gueye S, Niang L, Ogunbiyi O, Shittu O, Amodu O, Adebiyi A, Aisuodionoe-Shadrach O, Ajibola H, Jamda M, Oluwole O, Nwegbu M, Adusei B, Mante S, Darkwa-Abrahams A, Diop H, Gundell S, Roobol M, Jenster G, van Schaik R, Hu J, Sanderson M, Kachuri L, Varma R, McKean-Cowdin R, Torres M, Preuss M, Loos R, Zawistowski M, Zöllner S, Lu Z, Van Den Eeden S, Easton D, Ambs S, Edwards T, Mägi R, Rebbeck T, Fritsche L, Chanock S, Berndt S, Wiklund F, Nakagawa H, Witte J, Gaziano J, Justice A, Mancuso N, Terao C, , Eeles R, Kote-Jarai Z, Madduri R, Conti D, Haiman C
NAT GENET. 2023;55(12):2065-2074.

Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature
Wilke P, Biermann D, Grafmann M, Kozlik-Feldmann R, Papingi D, Sachweh J, Stute F, Olfe J
ORPHANET J RARE DIS. 2023;18(1):178.

Cluster headache genome-wide association study and meta-analysis identifies eight loci and implicates smoking as causal risk factor
Winsvold B, Harder A, Ran C, Chalmer M, Dalmasso M, Ferkingstad E, Tripathi K, Bacchelli E, Børte S, Fourier C, Petersen A, Vijfhuizen L, Magnusson S, O'Connor E, Bjornsdottir G, Häppölä P, Wang Y, Callesen I, Kelderman T, Gallardo V, de Boer I, Jennysdotter Olofsgård F, Heinze K, Lund N, Thomas L, Hsu C, Pirinen M, Hautakangas H, Ribasés M, Guerzoni S, Sivakumar P, Yip J, Heinze A, Küçükali F, Ostrowski S, Pedersen O, Kristoffersen E, Martinsen A, Artigas M, Lagrata S, Cainazzo M, Adebimpe J, Quinn O, Göbel C, Cirkel A, Volk A, Heilmann-Heimbach S, Skogholt A, Gabrielsen M, Wilbrink L, Danno D, Mehta D, Guðbjartsson D, Rosendaal F, Willems van Dijk K, Fronczek R, Wagner M, Scherer M, Göbel H, Sleegers K, Sveinsson O, Pani L, Zoli M, Ramos-Quiroga J, Dardiotis E, Steinberg A, Riedel-Heller S, Sjöstrand C, Thorgeirsson T, Stefansson H, Southgate L, Trembath R, Vandrovcova J, Noordam R, Paemeleire K, Stefansson K, Fann C, Waldenlind E, Tronvik E, Jensen R, Chen S, Houlden H, Terwindt G, Kubisch C, Maestrini E, Vikelis M, Pozo-Rosich P, Belin A, Matharu M, van den Maagdenberg A, Hansen T, Ramirez A, Zwart J
ANN NEUROL. 2023;94(4):713-726.

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
Abdalla E, Alawi M, Meinecke P, Kutsche K, Harms F
AM J MED GENET A. 2022;188(8):2448-2453.

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
Alves C, Sherbini O, D'Arco F, Steel D, Kurian M, Radio F, Ferrero G, Carli D, Tartaglia M, Balci T, Powell-Hamilton N, Schrier Vergano S, Reutter H, Hoefele J, Günthner R, Roeder E, Littlejohn R, Lessel D, Lüttgen S, Kentros C, Anyane-Yeboa K, Catarino C, Mercimek-Andrews S, Denecke J, Lyons M, Klopstock T, Bhoj E, Bryant L, Vanderver A
AM J NEURORADIOL. 2022;43(7):1048-1053.

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
Bauer C, Holling T, Horn D, Laço M, Abdalla E, Omar O, Alawi M, Kutsche K
INT J MOL SCI. 2022;23(17):.

PIGN encephalopathy: Characterizing the epileptology
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand M, Jezela-Stanek A, Jouk P, Keren B, Kloth K, Kluger G, Kuhn M, Lemke J, Li H, Martinez F, Maxton C, Mefford H, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec L, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold E, Stegmann A, Stumpel C, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer I, Møller R, Sadleir L
EPILEPSIA. 2022;63(4):974-991.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Christensen M, Levy A, Mohammadi N, Niceta M, Kaiyrzhanov R, Dentici M, Al Alam C, Alesi V, Benoit V, Bhatia K, Bierhals T, Boßelmann C, Buratti J, Callewaert B, Ceulemans B, Charles P, De Wachter M, Dehghani M, D'haenens E, Doco-Fenzy M, Geßner M, Gobert C, Guliyeva U, Haack T, Hammer T, Heinrich T, Hempel M, Herget T, Hoffmann U, Horvath J, Houlden H, Keren B, Kresge C, Kumps C, Lederer D, Lermine A, Magrinelli F, Maroofian R, Vahidi Mehrjardi M, Moudi M, Müller A, Oostra A, Pletcher B, Ros-Pardo D, Samarasekera S, Tartaglia M, Van Schil K, Vogt J, Wassmer E, Winkelmann J, Zaki M, Zech M, Lerche H, Radio F, Gomez-Puertas P, Møller R, Tümer Z
CLIN GENET. 2022;102(2):98-109.

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
Dahimene S, von Elsner L, Holling T, Mattas L, Pickard J, Lessel D, Pilch K, Kadurin I, Pratt W, Zhulin I, Dai H, Hempel M, Ruzhnikov M, Kutsche K, Dolphin A
BRAIN. 2022;145(8):2721-2729.

Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
Demal T, Scholz T, Schüler H, Olfe J, Fröhlich A, Speth F, von Kodolitsch Y, Mir T, Reichenspurner H, Kubisch C, Hempel M, Rosenberger G
SCI REP-UK. 2022;12(1):4489.

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng B, Dubois S, Collin-Deschesnes A, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank M, Allen J, Altmüller J, Arnold N, Ausems M, Berutti R, Bolla M, Bull S, Carvalho S, Cornelissen S, Dufault M, Dunning A, Engel C, Gehrig A, Geurts-Giele W, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst F, Hollestelle A, Hooning M, Horváth J, Ikram M, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens J, Niederacher D, Nürnberg P, Ott C, Peters A, Pharoah P, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Stäbler A, Strom T, Sutter C, Thiele H, van Asperen C, van der Kolk L, van der Luijt R, Volk A, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber B, Genome Of The Netherlands Project , Ghs Study Group , Devilee P, Tavtigian S, Bader G, Meindl A, Goldgar D, Andrulis I, Schmutzler R, Easton D, Schmidt M, Hahnen E, Simard J
CANCERS. 2022;14(14):.

Cold-Induced Lipoprotein Clearance in Cyp7b1-Deficient Mice
Evangelakos I, Kuhl A, Baguhl M, Schlein C, John C, Rohde J, Heine M, Worthmann A
FRONT CELL DEV BIOL. 2022;10(10):836741.

Association study between polymorphisms in DNA methylation-related genes and testicular germ cell tumor risk
Grasso C, Popovic M, Isaevska E, Lazzarato F, Fiano V, Zugna D, Pluta J, Weathers B, D'Andrea K, Almstrup K, Anson-Cartwright L, Bishop D, Chanock S, Chen C, Cortessis V, Dalgaard M, Daneshmand S, Ferlin A, Foresta C, Frone M, Gamulin M, Gietema J, Greene M, Grotmol T, Hamilton R, Haugen T, Hauser R, Karlsson R, Kiemeney L, Lessel D, Lista P, Lothe R, Loveday C, Meijer C, Nead K, Nsengimana J, Skotheim R, Turnbull C, Vaughn D, Wiklund F, Zheng T, Zitella A, Schwartz S, McGlynn K, Kanetsky P, Nathanson K, Richiardi L
CANCER EPIDEM BIOMAR. 2022;31(9):1769-1779.

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
Holling T, Bhavani G, von Elsner L, Shah H, Kausthubham N, Bhattacharyya S, Shukla A, Mortier G, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha K
HUM MUTAT. 2022;43(5):625-642.

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Holling T, Lisfeld J, Johannsen J, Matschke J, Song F, Altmeppen H, Kutsche K
HUM MUTAT. 2022;43(9):1224-1233.

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
Holling T, Nampoothiri S, Tarhan B, Schneeberger P, Vinayan K, Yesodharan D, Roy A, Radhakrishnan P, Alawi M, Rhodes L, Girisha K, Kang P, Kutsche K
EUR J HUM GENET. 2022;30(4):439-449.

Werner syndrome in a Lebanese family
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Reply by Authors
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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
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The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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GENOME MED. 2021;13(1):63.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies
Gripp K, Smithson S, Scurr I, Baptista J, Majumdar A, Pierre G, Williams M, Henderson L, Wentzensen I, McLaughlin H, Leeuwen L, Simon M, van Binsbergen E, Dinulos M, Kaplan J, McRae A, Superti-Furga A, Good J, Kutsche K
EUR J HUM GENET. 2021;29(9):1384-1395.

Congenital disorders of glycosylation with defective fucosylation
Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger R, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer K, Santer R, Herget T, Rennings A, Lefeber D, Mayr J, Thiel C, Wortmann S
J INHERIT METAB DIS. 2021;44(6):1441-1452.

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
Jandl N, Schmidt T, Rolvien T, Stürznickel J, Chrysostomou K, von Vopelius E, Volk A, Schinke T, Kubisch C, Amling M, Barvencik F
CALCIFIED TISSUE INT. 2021;108(3):288-301.

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly
Kloth K, Graul-Neumann L, Hermann K, Johannsen J, Bierhals T, Kortüm F
NEUROGENETICS. 2021;22(3):221-224.

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Kloth K, Lozic B, Tagoe J, Hoffer M, Van der Ven A, Thiele H, Altmüller J, Kubisch C, Au P, Denecke J, Bijlsma E, Lessel D
NEUROGENETICS. 2021;22(4):263-269.

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
Kloth K, Neu A, Rau I, Hülsemann W, Kutsche K, Volk A
EUR J MED GENET. 2021;64(3):.

The Golgi-Associated PDZ Domain Protein Gopc/PIST Is Required for Synaptic Targeting of mGluR5.
Klüssendorf M, Song I, Schau L, Morellini F, Dityatev A, Koliwer J, Kreienkamp H
MOL NEUROBIOL. 2021;58(11):5618–5634.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Knapp K, Jenkins D, Sullivan R, Harms F, von Elsner L, Ockeloen C, de Munnik S, Bongers E, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell L
EUR J HUM GENET. 2021;29(7):1110-1120.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Li D, Strong A, Shen K, Cassiman D, Van Dyck M, Linhares N, Valadares E, Wang T, Pena S, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Deindl P, Hakonarson H, Bhoj E
GENET MED. 2021;23(4):637-644.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Lissewski C, Chune V, Pantaleoni F, De Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio F, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio M, Cave H, Tartaglia M, Zenker M
EUR J HUM GENET. 2021;29(1):51-60.

Quantifying progression in primary progressive aphasia with structural neuroimaging
Lombardi J, Mayer B, Semler E, Anderl-Straub S, Uttner I, Kassubek J, Diehl-Schmid J, Danek A, Levin J, Fassbender K, Fliessbach K, Schneider A, Huppertz H, Jahn H, Volk A, Kornhuber J, Landwehrmeyer B, Lauer M, Prudlo J, Wiltfang J, Schroeter M, Ludolph A, Otto M
ALZHEIMERS DEMENT. 2021;17(10):1595-1609.

Xenotropic and polytropic retrovirus receptor 1 regulates procoagulant platelet polyphosphate
Mailer R, Allende M, Heestermans M, Schweizer M, Deppermann C, Frye M, Pula G, Odeberg J, Gelderblom M, Rose-John S, Sickmann A, Blankenberg S, Huber T, Kubisch C, Maas C, Gambaryan S, Firsov D, Stavrou E, Butler L, Renné T
BLOOD. 2021;137(10):1392-1405.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci I, Dang N, Huber H, Murry J, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke P, Berland S, Bierhals T, Bilan F, Bindoff L, Braathen G, Busk Ø, Chenbhanich J, Denecke J, Escobar L, Estes C, Fleischer J, Groepper D, Haaxma C, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad U, Brenman L, Martinez-Agosto J, Might M, Miller D, Minks K, Moghaddam B, Nava C, Nelson S, Parant J, Prescott T, Rajabi F, Randrianaivo H, Reiter S, Schuurs-Hoeijmakers J, Shieh P, Slavotinek A, Smithson S, Stegmann A, Tomczak K, Tveten K, Wang J, Whitlock J, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo N, Kreienkamp H, Lessel D
GENOME MED. 2021;13(1):90.

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos M, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker W, Jeffery S, Mortimer P, Gordon K, Josephs K, Robart S, Kilby M, Vallee S, Gorski J, Hempel M, Berland S, Mansour S, Ostergaard P
GENET MED. 2021;23(7):1376-1377.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos M, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker W, Jeffery S, Mortimer P, Gordon K, Josephs K, Robart S, Kilby M, Vallee S, Gorski J, Hempel M, Berland S, Mansour S, Ostergaard P
GENET MED. 2021;23(7):1315-1324.

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Melo U, Piard J, Fischer-Zirnsak B, Klever M, Schöpflin R, Mensah M, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms F, Kornak U, Spielmann M, Mundlos S, Van Maldergem L
HUM GENET. 2021;140(10):1459-1469.

EBF3 Neurodevelopmental Disorder
Narayanan D, Kutsche K, Girisha K
2021. GeneReviews®. 1. Aufl. Seattle: University of Washington, Seattle, 1-9.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
Nayak S, Schneeberger P, Patil S, Arun K, Suresh P, Kiran V, Siddaiah S, Maiya S, Venkatachalagupta S, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha K, Kutsche K
SCI REP-UK. 2021;11(1):.

Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization
Pan Y, Tibbe D, Harms F, Reißner C, Becker K, Dingmann B, Mirzaa G, Kattentidt-Mouravieva A, Shoukier M, Aggarwal S, Missler M, Kutsche K, Kreienkamp H
J NEUROCHEM. 2021;157(4):1331-1350.

Identification of 22 susceptibility loci associated with testicular germ cell tumors
Pluta J, Pyle L, Nead K, Wilf R, Li M, Mitra N, Weathers B, D'Andrea K, Almstrup K, Anson-Cartwright L, Benitez J, Brown C, Chanock S, Chen C, Cortessis V, Ferlin A, Foresta C, Gamulin M, Gietema J, Grasso C, Greene M, Grotmol T, Hamilton R, Haugen T, Hauser R, Hildebrandt M, Johnson M, Karlsson R, Kiemeney L, Lessel D, Lothe R, Loud J, Loveday C, Martin-Gimeno P, Meijer C, Nsengimana J, Quinn D, Rafnar T, Ramdas S, Richiardi L, Skotheim R, Stefansson K, Turnbull C, Vaughn D, Wiklund F, Wu X, Yang D, Zheng T, Wells A, Grant S, Rajpert-De Meyts E, Schwartz S, Bishop D, McGlynn K, Kanetsky P, Nathanson K
NAT COMMUN. 2021;12(1):4487.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Rots D, Chater-Diehl E, Dingemans A, Goodman S, Siu M, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries B, Deden A, Leenders E, Kwint M, Stumpel C, Stevens S, Vermeulen J, van Harssel J, Bosch D, van Gassen K, van Binsbergen E, de Geus C, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen I, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager L, Larsen M, Schultz-Rogers L, Morava E, Klee E, Berry I, Campbell J, Lindstrom K, Pruniski B, Neumeyer A, Radley J, Phornphutkul C, Schmidt B, Wilson W, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk M, Cohn R, Kannu P, Alkhunaizi E, Chitayat D, Scherer S, Brunner H, Vissers L, Kleefstra T, Koolen D, Weksberg R
AM J HUM GENET. 2021;108(6):1053-1068.

SHANK3 conformation regulates direct actin binding and crosstalk with Rap1 signaling
Salomaa S, Miihkinen M, Kremneva E, Paatero I, Lilja J, Jacquemet G, Vuorio J, Antenucci L, Kogan K, Hassani Nia F, Hollos P, Isomursu A, Vattulainen I, Coffey E, Kreienkamp H, Lappalainen P, Ivaska J
CURR BIOL. 2021;31(22):4956-4970.e9.

TFEB-deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality
Sass F, Schlein C, Jaeckstein M, Pertzborn P, Schweizer M, Schinke T, Ballabio A, Scheja L, Heeren J, Fischer A
MOL METAB. 2021;47:101173.

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
Schneeberger P, Nampoothiri S, Holling T, Yesodharan D, Alawi M, Knisely A, Müller T, Plecko B, Janecke A, Kutsche K
BRAIN. 2021;2021(awab206):.

Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
Schob C, Hempel M, Brozkova D, Jiang H, Kim S, Batzir N, Orenstein N, Bierhals T, Johannsen J, Meszarosova A, Chae J, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J
ANN NEUROL. 2021;90(5):738-750.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz T, Blohm M, Kortüm F, Bierhals T, Lessel D, van der Ven A, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M
NEONATOLOGY. 2021;118(4):454-461.

Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen: Aktueller Stand, Herausforderungen, Perspektiven
Scholz T, Dufke A, Haack T, Elbracht M, Eggermann T, Roggia C, Riess O, Kurth I, Hempel M
MONATSSCHR KINDERH. 2021;170:21-28.

Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome
Schoof M, Kordes U, Volk A, Al-Kershi S, Kresbach C, Schüller U
ACTA NEUROPATHOL. 2021;142(3):591-593.

Der besondere Fall: Genetisches Aortensyndrom
Schüler H, Neumann J, Wipper S, Kölbel T, Hempel M, Osterwald A, Püschel K
Hamb Ärztebl. 2021;2021(10):36-40.

Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study
Steinacker P, Feneberg E, Halbgebauer S, Witzel S, Verde F, Oeckl P, Van Damme P, Gaur N, Gray E, Grosskreutz J, Jardel C, Kachanov M, Kuhle J, Lamari F, Maceski A, Del Mar Amador M, Mayer B, Morelli C, Petri S, Poesen K, Raaphorst J, Salachas F, Silani V, Turner M, Verbeek M, Volk A, Weishaupt J, Weydt P, Ludolph A, Otto M
AMYOTROPH LAT SCL FR. 2021;22(3-4):276-286.

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
Stenton S, Sheremet N, Catarino C, Andreeva N, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla M, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis Y, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova T, Kunz W, La Morgia C, Lamperti C, Ludwig C, Malacarne P, Maresca A, Mayr J, Meisterknecht J, Nevinitsyna T, Palombo F, Pode-Shakked B, Shmelkova M, Strom T, Tagliavini F, Tzadok M, van der Ven A, Vignal-Clermont C, Wagner M, Zakharova E, Zhorzholadze N, Rozet J, Carelli V, Tsygankova P, Klopstock T, Wittig I, Prokisch H
J CLIN INVEST. 2021;131(6):.

Functional analysis of CASK transcript variants expressed in human brain.
Tibbe D, Pan Y, Reißner C, Harms F, Kreienkamp H
PLOS ONE. 2021;16(6):e0253223.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven A, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M
CLIN GENET. 2021;100(6):766-770.

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
Volk A, Hedergott A, Preising M, Rading S, Fricke J, Herkenrath P, Nürnberg P, Altmüller J, von Ameln S, Lorenz B, Neugebauer A, Karsak M, Kubisch C
HUM GENET. 2021;140(8):1157-1168.

Das Marfan-Syndrom als genetisch bedingte Aortenerkrankung
von Kodolitsch Y, Schüler H, Kutsche K, Vogler M, Szöcs K
Herzblatt. 2021;2021(1):10-13.

Clinico-genetic findings in 509 frontotemporal dementia patients
Wagner M, Lorenz G, Volk A, Brunet T, Edbauer D, Berutti R, Zhao C, Anderl-Straub S, Bertram L, Danek A, Deschauer M, Dill V, Fassbender K, Fliessbach K, Götze K, Jahn H, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Prudlo J, Schneider A, Schroeter M, Uttner I, Vukovich R, Wiltfang J, Winkler A, Zhou Q, Ludolph A, , Oexle K, Otto M, Diehl-Schmid J, Winkelmann J
MOL PSYCHIATR. 2021;26(10):5824-5832.

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Zarate Y, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki A, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate C, Sacoto M, Schnur R, Morrow M, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen A, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K
GENET MED. 2021;23(6):1050-1057.

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich U, Lerche H, Lemke J, van Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy G, Rehm H, McLaughlin H, Bolz H, Zechner U, Bryant E, McDonough T, Kindler S, Bähring R
HUM MOL GENET. 2021;30(23):2300-2314.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot A, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White S, Gallacher L, Kutsche K, Schneeberger P, Girisha K, Nayak S, Pais L, Maroofian R, Rad A, Vona B, Karimiani E, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M
AM J HUM GENET. 2021;108(6):1126-1137.

Characterization of agonist-dependent somatostatin receptor subtype 2 trafficking in neuroendocrine cells
Alshafie W, Pan Y, Kreienkamp H, Stroh T
ENDOCRINE. 2020;69(3):655-669.

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
Barschke P, Öckl P, Steinacker P, Al Shweiki M, Weishaupt J, Landwehrmeyer G, Anderl-Straub S, Weydt P, Diehl-Schmid J, Danek A, Kornhuber J, Schroeter M, Prudlo J, Jahn H, Fassbender K, Lauer M, van der Ende E, van Swieten J, Volk A, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2020;91(5):503-511.

The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor
Brandão A, Paulo P, Maia S, Pinheiro M, Peixoto A, Cardoso M, Silva M, Santos C, Eeles R, Kote-Jarai Z, Muir K, Ukgpcs Collaborators , Schleutker J, Wang Y, Pashayan N, Batra J, Apcb BioResource , Grönberg H, Neal D, Nordestgaard B, Tangen C, Southey M, Wolk A, Albanes D, Haiman C, Travis R, Stanford J, Mucci L, West C, Nielsen S, Kibel A, Cussenot O, Berndt S, Koutros S, Sørensen K, Cybulski C, Grindedal E, Park J, Ingles S, Maier C, Hamilton R, Rosenstein B, Vega A, The Impact Study Steering Committee And Collaborators , Kogevinas M, Wiklund F, Penney K, Brenner H, John E, Kaneva R, Logothetis C, Neuhausen S, Ruyck K, Razack A, Newcomb L, Canary Pass Investigators , Lessel D, Usmani N, Claessens F, Gago-Dominguez M, Townsend P, Roobol M, The Profile Study Steering Committee , The Practical Consortium , Teixeira M
CANCERS. 2020;12(11):.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Bryant L, Cox S, Marchione D, Joiner E, Wilson K, Janssen K, Lee P, March M, Nair D, Sherr E, Fregeau B, Wierenga K, Wadley A, Mancini G, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford H, Powis Z, Cho M, Willing M, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino C, Retterer K, Schuette J, Innis J, Pizzino A, Lüttgen S, Denecke J, Strom T, Monaghan K, Yuan Z, Dubbs H, Bend R, Lee J, Lyons M, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig K, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik M, Õunap K, Ilves P, Innes A, Kernohan K, Costain G, Meyn M, Chitayat D, Zackai E, Lehman A, Kitson H, Martin M, Martinez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Sinsheimer J, Vilain E, Wan J, Yoon A, Zheng A, Brimble E, Ferrero G, Radio F, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas J, Umana L, Weiss M, Gotway G, Stuurman K, Thompson M, McWalter K, Stumpel C, Stevens S, Stegmann A, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund L, Larsen M, Byler M, Lebel R, Hurst A, Dean J, Schrier Vergano S, Norman J, Mercimek-Andrews S, Neira J, Van Allen M, Longo N, Sellars E, Louie R, Cathey S, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump J, Chung W, Garcia B, Hakonarson H, Bhoj E
SCI ADV. 2020;6(49):.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Castilla-Vallmanya L, Selmer K, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders M, van Essen A, Oufadem M, Vigeland M, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis J, Iascone M, Cereda A, Gabbiadini S, Chung W, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them F, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen K, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver E, Heeley J, Briere L, High F, Sweetser D, Walker M, Keegan C, Jayakar P, Shinawi M, Kerstjens-Frederikse W, Earl D, Siu V, Reesor E, Yao T, Hegele R, Vaske O, Rego S, Shapiro K, Wong B, Gambello M, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan T, Christodoulou J, White S, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho M, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon C
GENET MED. 2020;22(7):1215-1226.

Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
Chateau A, Kutsche K, Fuchs S, Harms F, Kruse C, Mosam A
INT J DERMATOL. 2020;59(7):864-866.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed M, Rahbeeni Z, AlZaidan H, Malintan N, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani S, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy N, AlQuait L, Qari A, Huma R, Salih M, Almass R, Almutairi F, Hamad M, Alorainy I, Ramzan K, Imtiaz F, Puiu M, Kruer M, Bierhals T, Wood N, Colak D, Houlden H, Kaya N
EUR J NEUROL. 2020;27(2):334-342.

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair G, Hempel M, Flucher B, Kutsche K
PLOS GENET. 2020;16(3):e1008625.

Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta
Danyukova T, Ludwig N, Velho R, Harms F, Güneş N, Tidow H, Schwartz I, Tüysüz B, Pohl S
HUM MUTAT. 2020;41(1):133-139.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas T, Li D, Nair D, Alaimo J, Alders M, Altmüller J, Barakat T, Bebin E, Bertsch N, Blackburn P, Blesson A, Bouman A, Brockmann K, Brunelle P, Burmeister M, Cooper G, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik L, Gunderson L, Hasadsri L, Jain M, Karimov C, Keena B, Klee E, Kloth K, Lace B, Macchiaiolo M, Marcadier J, Milunsky J, Napier M, Ortiz-Gonzalez X, Pichurin P, Pinner J, Powis Z, Prasad C, Radio F, Rasmussen K, Renaud D, Rush E, Saunders C, Selcen D, Seman A, Shinde D, Smith E, Smol T, Snijders Blok L, Stoler J, Tang S, Tartaglia M, Thompson M, van de Kamp J, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai E, Zampino G, Campeau P, Bhoj E
EUR J HUM GENET. 2020;28(10):1422-1431.

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5
Eggermann T, Kraft F, Kloth K, Klopocki E, Hüning I, Hempel M, Kunstmann E
CLIN GENET. 2020;98(4):418-419.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy N, Selim L, Paneque A, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze J, Rötig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee S, Manivet P, Lenaers G, Reversade B, Lévy N, De Sandre-Giovannoli A
NAT COMMUN. 2020;11(1):4589.

Brown adipose tissue lipoprotein and glucose disposal is not determined by thermogenesis in uncoupling protein 1-deficient mice
Fischer A, Behrens J, Sass F, Schlein C, Heine M, Pertzborn P, Scheja L, Heeren J
J LIPID RES. 2020;61(11):1377-1389.

Thermoneutrality-Induced Macrophage Accumulation in Brown Adipose Tissue Does Not Impair the Tissue's Competence for Cold-Induced Thermogenic Recruitment
Fischer A, de Jong J, Sass F, Schlein C, Heeren J, Petrovic N
FRONT ENDOCRINOL. 2020;11:568682.

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
Gripp K, Baker L, Robbins K, Stabley D, Bellus G, Kolbe V, Nauth T, Rosenberger G
EUR J HUM GENET. 2020;28(11):1548-1554.

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth
Harms F, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday B, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan S, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson S, Nampoothiri S, Kutsche K
HUM MUTAT. 2020;41(9):1645-1661.

POLR3A variants with striatal involvement and extrapyramidal movement disorder
Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Bierhals T, Karch S, Moog U, Bernard G, Huntsman R, van Spaendonk R, Vreeburg M, Rodríguez-Palmero A, Pujol A, van der Knaap M, Pouwels P, Wolf N
NEUROGENETICS. 2020;21(2):121-133.

Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling
Hassani Nia F, Woike D, Kloth K, Kortüm F, Kreienkamp H
J NEUROCHEM. 2020;155(3):250-263.

Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus
Hassani Nia F, Woike D, Martens V, Klüssendorf M, Hönck H, Harder S, Kreienkamp H
MOL AUTISM. 2020;11(1):85.

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation
Hecher L, Johannsen J, Bierhals T, Buhk J, Hempel M, Denecke J
NEUROPEDIATRICS. 2020;51(6):435-439.

The H-Y Antigen in Embryonic Stem Cells Causes Rejection in Syngeneic Female Recipients
Hu X, Kueppers S, Kooreman N, Gravina A, Wang D, Tediashvili G, Schlickeiser S, Frentsch M, Nikolaou C, Thiel A, Marcus S, Fuchs S, Velden J, Reichenspurner H, Volk H, Deuse T, Schrepfer S
STEM CELLS DEV. 2020;29(18):1179-1189.

Rationale and Design of the Hamburg City Health Study
Jagodzinski A, Johansen C, Koch-Gromus U, Aarabi G, Adam G, Anders S, Augustin M, der Kellen R, Beikler T, Behrendt C, Betz C, Bokemeyer C, Borof K, Briken P, Busch C, Büchel C, Brassen S, Debus E, Eggers L, Fiehler J, Gallinat J, Gellißen S, Gerloff C, Girdauskas E, Gosau M, Graefen M, Härter M, Harth V, Heidemann C, Heydecke G, Huber T, Hussein Y, Kampf M, von dem Knesebeck O, Konnopka A, König H, Kromer R, Kubisch C, Kühn S, Loges S, Löwe B, Lund G, Meyer C, Nagel L, Nienhaus A, Pantel K, Petersen E, Püschel K, Reichenspurner H, Sauter G, Scherer M, Scherschel K, Schiffner U, Schnabel R, Schulz H, Smeets R, Sokalskis V, Spitzer M, Terschüren C, Thederan I, Thoma T, Thomalla G, Waschki B, Wegscheider K, Wenzel J, Wiese S, Zyriax B, Zeller T, Blankenberg S
EUR J EPIDEMIOL. 2020;35(2):169-181.

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2
Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Kornhuber J, Peters O, Diez-Fairen M, Frölich L, Hüll M, Wiltfang J, Scherer M, Riedel-Heller S, Schneider A, Heneka M, Fliessbach K, Sharaf A, Thiele H, Lennarz M, Jessen F, Maier W, Kubisch C, Ignatova Z, Nürnberg P, Pastor P, Walter J, Ramirez A
HUM MUTAT. 2020;41(1):169-181.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan T, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy J, McCormick E, Hakonarson H, Falk M, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp C, Nibbeling E, Dingemans A, Douine E, Nelson S, Arboleda V, Newbury-Ecob R
GENET MED. 2020;22(11):1920.

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Kloth K, Vater I, Lindschau R, Rau I, Caliebe A, Muschol N
MOL GENET METAB REP. 2020;25:.

Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46
Kloth-Stachnau K, Cozma C, Bester M, Gerloff C, Biskup S, Zittel S
EUR J MED GENET. 2020;63(9):103992.

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
Kortüm F, Niceta M, Magliozzi M, Kubat K, Robertson S, Moresco A, Dentici M, Baban A, Leoni C, Onesimo R, Obregon M, Digilio M, Zampino G, Novelli A, Tartaglia M, Kutsche K
EUR J MED GENET. 2020;63(9):103996.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto M, Guimier A, Harris D, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst M, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière J, Thauvin-Robinet C, Betschinger J, Faivre L
J MED GENET. 2020;57(12):808-819.

Germline AGO2 mutations impair RNA interference and human neurological development
Lessel D, Zeitler D, Reijnders M, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan E, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink H, Cham B, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias K, Evans C, Andrews P, Roscioli T, Brunner H, Chijiwa C, Lewis M, Jamra R, Dyment D, Boycott K, Stegmann A, Kubisch C, Tan E, Mirzaa G, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp H
NAT COMMUN. 2020;11(1):5797.

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
Lessel I, Chen M, Lüttgen S, Arndt F, Fuchs S, Meien S, Thiele H, Jones J, Shaw B, Crossman D, Nürnberg P, Korf B, Kubisch C, Lessel D
HUM GENET. 2020;139(4):483-498.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Mak C, Doherty D, Lin A, Vegas N, Cho M, Viot G, Dimartino C, Weisfeld-Adams J, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate Y, Ehmke N, Horn D, Troyer C, Kant S, Lee Y, Ishak G, Leung G, Barone Pritchard A, Yang S, Bend E, Filippini F, Roadhouse C, Lebrun N, Mehaffey M, Martin P, Apple B, Millan F, Puk O, Hoffer M, Henderson L, McGowan R, Wentzensen I, Pei S, Zahir F, Yu M, Gibson W, Seman A, Steeves M, Murrell J, Luettgen S, Francisco E, Strom T, Amlie-Wolf L, Kaindl A, Wilson W, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers L, Radtke K, Chelly J, Zackai E, Friedman J, Bamshad M, Nickerson D, , Reid R, Devriendt K, Chae J, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan T, Orenstein N, Dobyns W, Shieh J, Choi M, Waggoner D, Gripp K, Parker M, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman T, Amiel J, Chung B, Gordon C
BRAIN. 2020;143(1):55-68.

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Marten L, Brinkert F, Smith D, Prokisch H, Hempel M, Santer R
MOL GENET METAB REP. 2020;25:100681.

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
Moore K, Nicholas J, Grossman M, McMillan C, Irwin D, Massimo L, Van Deerlin V, Warren J, Fox N, Rossor M, Mead S, Bocchetta M, Boeve B, Knopman D, Graff-Radford N, Forsberg L, Rademakers R, Wszolek Z, van Swieten J, Jiskoot L, Meeter L, Dopper E, Papma J, Snowden J, Saxon J, Jones M, Pickering-Brown S, Le Ber I, Camuzat A, Brice A, Caroppo P, Ghidoni R, Pievani M, Benussi L, Binetti G, Dickerson B, Lucente D, Krivensky S, Graff C, Öijerstedt L, Fallström M, Thonberg H, Ghoshal N, Morris J, Borroni B, Benussi A, Padovani A, Galimberti D, Scarpini E, Fumagalli G, Mackenzie I, Hsiung G, Sengdy P, Boxer A, Rosen H, Taylor J, Synofzik M, Wilke C, Sulzer P, Hodges J, Halliday G, Kwok J, Sanchez-Valle R, Lladó A, Borrego-Ecija S, Santana I, Almeida M, Tábuas-Pereira M, Moreno F, Barandiaran M, Indakoetxea B, Levin J, Danek A, Rowe J, Cope T, Otto M, Anderl-Straub S, de Mendonça A, Maruta C, Masellis M, Black S, Couratier P, Lautrette G, Huey E, Sorbi S, Nacmias B, Laforce R, Tremblay M, Vandenberghe R, Damme P, Rogalski E, Weintraub S, Gerhard A, Onyike C, Ducharme S, Papageorgiou S, Lyn A, Brodtmann A, Finger E, Guerreiro R, Bras J, Rohrer J
LANCET NEUROL. 2020;19(2):145-156.

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family
Niemeyer E, Mofid H, Zornig C, Burandt E, Stein A, Block A, Volk A
BMC GASTROENTEROL. 2020;20(1):129.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration
Polovitskaya M, Barbini C, Martinelli D, Harms F, Cole F, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner D, Kutsche K, Tartaglia M, Jentsch T
AM J HUM GENET. 2020;107(6):1062-1077.

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature
Rohdenburg C, Liersch J, Kutsche K, Schaller J
AM J DERMATOPATH. 2020;42(9):653-661.

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage
Sauvigny T, Alawi M, Krause L, Renner S, Spohn M, Busch A, Kolbe V, Altmüller J, Löscher B, Franke A, Brockmann C, Lieb W, Westphal M, Schmidt N, Regelsberger J, Rosenberger G
J NEUROL. 2020;267(9):2533-2545.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger P, Kortüm F, Korenke G, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb B, Coci E, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier E, Javaher-Haghighi P, Bedeschi M, Ajmone P, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen M, Beysen D, Kooy R, Houlden H, Murphy D, Doosti M, Karimiani E, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, , Gelb B, Kurth I, Hempel M, Kutsche K
BRAIN. 2020;143(8):2437-2453.

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
Schneeberger P, Nayak S, Fuchs S, Kutsche K, Girisha K
AM J MED GENET A. 2020;182(11):2793-2796.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
Schneeberger P, von Elsner L, Barker E, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg P, Weiss M, Merry C, Kutsche K
AM J HUM GENET. 2020;107(6):1044-1061.

Cell Banking of hiPSCs: A Practical Guide to Cryopreservation and Quality Control in Basic Research
Shibamiya A, Schulze E, Krauß D, Augustin C, Reinsch M, Schulze M, Steuck S, Mearini G, Mannhardt I, Schulze T, Klampe B, Werner T, Saleem U, Knaust A, Laufer S, Neuber C, Lemme M, Behrens C, Loos M, Weinberger F, Fuchs S, Eschenhagen T, Hansen A, Ulmer B
Current protocols in stem cell biology. 2020;55(1):e127.

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population
Sismani C, Rapti S, Iliopoulou P, Spring A, Neroutsou R, Lagou M, Robola M, Tsitsopoulos E, Kousoulidou L, Alexandrou A, Papaevripidou I, Theodosiou A, Syrrou M, Fuchs S, Hempel M, Huhle D, Liehr T, Ziegler M, Duesberg M, Velissariou V
J HUM GENET. 2020;65(9):783-795.

Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
Stark V, Hensen F, Kutsche K, Kortüm F, Olfe J, Wiegand P, von Kodolitsch Y, Kozlik-Feldmann R, Müller G, Mir T
GENES-BASEL. 2020;11(7):1-15.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church J, Crushell E, Dalgıç B, Das A, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut N, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass M, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr J, McKiernan P, Mention K, Moog U, Mungan N, Riedhammer K, Santer R, Palafoll I, Vockley J, Westphal D, Wiedemann A, Wortmann S, Diwan G, Russell R, Prokisch H, Garbade S, Kölker S, Hoffmann G, Lenz D
GENET MED. 2020;22(3):610-621.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima J, Kim C, Salomao J, Amor D, Cooper M, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani E, Toosi M, Houlden H, Jin S, Si Y, Rodan L, Venselaar H, Kruer M, Kok F, Hoffmann G, Strom T, Wortmann S, Tabet A, Opladen T
GENET MED. 2020;22(6):1061-1068.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano M, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel P, Tadini G, Walter S, Hauck F, Girisha K, Calza A, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik K, Betz R, Lin Z
AM J HUM GENET. 2020;107(1):34-45.

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability
Weil D, Piton A, Lessel D, Standart N
BIOCHEM SOC T. 2020;48(3):1199-1211.

Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom
Weiss D, Kortüm F, Driemeyer J, Kloth K
MONATSSCHR KINDERH. 2020.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Windheuser I, Becker J, Cremer K, Hundertmark H, Yates L, Mangold E, Peters S, Degenhardt F, Ludwig K, Zink A, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom T, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H
AM J MED GENET A. 2020;182(5):1021-1031.

Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia
Xu L, Harms F, Chirasani V, Pasek D, Kortüm F, Meinecke P, Dokholyan N, Kutsche K, Meissner G
CELL CALCIUM. 2020;87:102182.

SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
Yilmaz R, Müller K, Brenner D, Volk A, Borck G, Hermann A, Meitinger T, Strom T, Danzer K, Ludolph A, Andersen P, Weishaupt J
NEUROBIOL AGING. 2020;87:139.e9-139.e15.

Inflammatory Biomarkers and Clinical Judgment in the Emergency Diagnosis of Urgent Abdominal Pain

CLIN CHEM. 2019;65(2):302-312.

Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study
Adams C, Richmond R, Ferreira D, Spiller W, Tan V, Zheng J, Würtz P, Donovan J, Hamdy F, Neal D, Lane J, Smith G, Relton C, Eeles R, Haiman C, Kote-Jarai Z, Schumacher F, Olama A, Benlloch S, Muir K, Berndt S, Conti D, Wiklund F, Chanock S, Gapstur S, Stevens V, Tangen C, Batra J, Clements J, Gronberg H, Pashayan N, Schleutker J, Albanes D, Wolk A, West C, Mucci L, Cancel-Tassin G, Koutros S, Sorensen K, Maehle L, Travis R, Hamilton R, Ingles S, Rosenstein B, Lu Y, Giles G, Kibel A, Vega A, Kogevinas M, Penney K, Park J, Stanford J, Cybulski C, Nordestgaard B, Brenner H, Maier C, Kim J, John E, Teixeira M, Neuhausen S, De Ruyck K, Razack A, Newcomb L, Lessel D, Kaneva R, Usmani N, Claessens F, Townsend P, Dominguez M, Roobol M, Menegaux F, Khaw K, Cannon-Albright L, Pandha H, Thibodeau S, Martin R
CANCER EPIDEM BIOMAR. 2019;28(1):208-216.

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors
AlDubayan S, Pyle L, Gamulin M, Kulis T, Moore N, Taylor-Weiner A, Hamid A, Reardon B, Wubbenhorst B, Godse R, Vaughn D, Jacobs L, Meien S, Grgic M, Kastelan Z, Markt S, Damrauer S, Rader D, Kember R, Loud J, Kanetsky P, Greene M, Sweeney C, Kubisch C, Nathanson K, Van Allen E, Stewart D, Lessel D
JAMA ONCOL. 2019;5(4):514-522.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen P, Nordström U, Tsiakas K, Johannsen J, Volk A, Bierhals T, Zetterström P, Marklund S, Hempel M, Santer R
NEW ENGL J MED. 2019;381(5):486-488.

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome
Bauer C, Schneeberger P, Kortüm F, Altmüller J, Santos-Simarro F, Baker L, Keller-Ramey J, White S, Campeau P, Gripp K, Kutsche K
AM J HUM GENET. 2019;104(6):1139-1157.

Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson's disease
Benkert J, Hess S, Roy S, Beccano-Kelly D, Wiederspohn N, Duda J, Simons C, Patil K, Gaifullina A, Mannal N, Dragicevic E, Spaich D, Müller S, Nemeth J, Hollmann H, Deuter N, Mousba Y, Kubisch C, Poetschke C, Striessnig J, Pongs O, Schneider T, Wade-Martins R, Patel S, Parlato R, Frank T, Kloppenburg P, Liss B
NAT COMMUN. 2019;10(1):5094.

Genome-wide association analysis suggests novel loci for Hashimoto's thyroiditis
Brčić L, Barić A, Gračan S, Brekalo M, Kaličanin D, Gunjača I, Torlak Lovrić V, Tokić S, Radman M, Škrabić V, Miljković A, Kolčić I, Štefanić M, Glavaš-Obrovac L, Lessel D, Polašek O, Zemunik T, Barbalić M, Punda A, Boraska Perica V
J ENDOCRINOL INVEST. 2019;42(5):567-576.

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
Brenner D, Rosenbohm A, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys K, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk A, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer K, Freischmidt A, Meitinger T, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2019;142(12):e67.

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis
Burkhalter M, Sridhar A, Sampaio P, Jacinto R, Burczyk M, Donow C, Angenendt M, , Hempel M, Walther P, Pennekamp P, Omran H, Lopes S, Ware S, Philipp M
J CLIN INVEST. 2019;129(7):2841-2855.

FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations
Diehl-Schmid J, Licata A, Goldhardt O, Förstl H, Yakushew I, Otto M, Anderl-Straub S, Beer A, Ludolph A, Landwehrmeyer G, Levin J, Danek A, Fliessbach K, Spottke A, Fassbender K, Lyros E, Prudlo J, Krause B, Volk A, Edbauer D, Schroeter M, Drzezga A, Kornhuber J, Lauer M, , Grimmer T
TRANSL PSYCHIAT. 2019;9(1):54.

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia
Engel N, Schliffke S, Schüller U, Frenzel C, Bokemeyer C, Kubisch C, Lessel D
FRONT ONCOL. 2019;9:420.

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects
Filatova A, Rey L, Lechler M, Schaper J, Hempel M, Posmyk R, Szczaluba K, Santen G, Wieczorek D, Nuber U
NAT COMMUN. 2019;10(1):2966.

PID1 regulates insulin-dependent glucose uptake by controlling intracellular sorting of GLUT4-storage vesicles
Fischer A, Albers K, Schlein C, Sass F, Krott L, Schmale H, Gordts P, Scheja L, Heeren J
BBA-MOL BASIS DIS. 2019;1865(6):1592-1603.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Girisha K, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani G, Nishimura G, Kutsche K, Mortier G
HUM MUTAT. 2019;40(3):299-309.

SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication
Halder S, Torrecilla I, Burkhalter M, Popović M, Fielden J, Vaz B, Oehler J, Pilger D, Lessel D, Wiseman K, Singh A, Vendrell I, Fischer R, Philipp M, Ramadan K
NAT COMMUN. 2019;10(1):3142.

Biochemie hoch2: und Molekularbiologie
Hampe W, Fluhrer R, Kouz K, Unterleitner C, Averbeck B, Dankwardt A, Duszenko M, Eberharter A, Harter C, Höppner S, Kindler S, Kreienkamp H, Korber P, Neumann S, Nielsen P, Salat D, Schling P, Wild-Bode C
2019.

In Reply - Exomesequencing in children
Hempel M
DTSCH ARZTEBL INT. 2019;116(27-28):487.

PEDIA: prioritization of exome data by image analysis
Hsieh T, Mensah M, Pantel J, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen H, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden H, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp K, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon G, Mangold E, Reina P, Carrascal A, Mitter D, Herrador L, Nadav G, Nöthen M, Orrico A, Ott C, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg C, Robinson P, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk E, Sznajer Y, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung M, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz P
GENET MED. 2019;21(12):2807-2814.

Hypophosphatasie - eine klinisch und genetisch variable Erkrankung
Jandl N, Volk A, Barvencik F
MED GENET-BERLIN. 2019;2019(31):364-371.

Shared heritability and functional enrichment across six solid cancers
Jiang X, Finucane H, Schumacher F, Schmit S, Tyrer J, Han Y, Michailidou K, Lesseur C, Kuchenbaecker K, Dennis J, Conti D, Casey G, Gaudet M, Huyghe J, Albanes D, Aldrich M, Andrew A, Andrulis I, Anton-Culver H, Antoniou A, Antonenkova N, Arnold S, Aronson K, Arun B, Bandera E, Barkardottir R, Barnes D, Batra J, Beckmann M, Benitez J, Benlloch S, Berchuck A, Berndt S, Bickeböller H, Bien S, Blomqvist C, Boccia S, Bogdanova N, Bojesen S, Bolla M, Brauch H, Brenner H, Brenton J, Brook M, Brunet J, Brunnström H, Buchanan D, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo M, Campbell I, Campbell P, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho A, Chan A, Chang-Claude J, Chanock S, Chen C, Christiani D, Claes K, Claessens F, Clements J, Collée J, Correa M, Couch F, Cox A, Cunningham J, Cybulski C, Czene K, Daly M, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan J, Dörk T, Duell E, Dunning A, Dwek M, Eccles D, Edlund C, Edwards D, Ellberg C, Evans D, Fasching P, Ferris R, Liloglou T, Figueiredo J, Fletcher O, Fortner R, Fostira F, Franceschi S, Friedman E, Gallinger S, Ganz P, Garber J, García-Sáenz J, Gayther S, Giles G, Godwin A, Goldberg M, Goldgar D, Goode E, Goodman M, Goodman G, Grankvist K, Greene M, Gronberg H, Gronwald J, Guénel P, Håkansson N, Hall P, Hamann U, Hamdy F, Hamilton R, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, Høgdall E, Hong Y, Hopper J, Houlston R, Hulick P, Hunter D, Huntsman D, Idos G, Imyanitov E, Ingles S, Isaacs C, Jakubowska A, James P, Jenkins M, Johansson M, Johansson M, John E, Joshi A, Kaneva R, Karlan B, Kelemen L, Kühl T, Khaw K, Khusnutdinova E, Kibel A, Kiemeney L, Kim J, Kjaer S, Knight J, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen V, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi M, Lazarus P, Le N, Lee E, Lejbkowicz F, Lenz H, Leslie G, Lessel D, Lester J, Levine D, Li L, Li C, Lindblom A, Lindor N, Liu G, Loupakis F, Lubiński J, Maehle L, Maier C, Mannermaa A, Marchand L, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne R, MacInnis R, Modugno F, Montagna M, Moreno V, Moysich K, Mucci L, Muir K, Mulligan A, Nathanson K, Neal D, Ness A, Neuhausen S, Nevanlinna H, Newcomb P, Newcomb L, Nielsen F, Nikitina-Zake L, Nordestgaard B, Nussbaum R, Offit K, Olah E, Olama A, Olopade O, Olshan A, Olsson H, Osorio A, Pandha H, Park J, Pashayan N, Parsons M, Pejovic T, Penney K, Peters W, Phelan C, Phipps A, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus S, Raskin L, Rennert G, Rennert H, van Rensburg E, Riggan M, Risch H, Risch A, Roobol M, Rosenstein B, Rossing M, De Ruyck K, Saloustros E, Sandler D, Sawyer E, Schabath M, Schleutker J, Schmidt M, Setiawan V, Shen H, Siegel E, Sieh W, Singer C, Slattery M, Sorensen K, Southey M, Spurdle A, Stanford J, Stevens V, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow A, Tajara E, Tangen C, Tardon A, Taylor J, Teare M, Teixeira M, Terry M, Terry K, Thibodeau S, Thomassen M, Bjørge L, Tischkowitz M, Toland A, Torres D, Townsend P, Travis R, Tung N, Tworoger S, Ulrich C, Usmani N, Vachon C, Van Nieuwenhuysen E, Vega A, Aguado-Barrera M, Wang Q, Webb P, Weinberg C, Weinstein S, Weissler M, Weitzel J, West C, White E, Whittemore A, Wichmann H, Wiklund F, Winqvist R, Wolk A, Woll P, Woods M, Wu A, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn K, Lane J, Saxena R, Thomas D, Hung R, Diergaarde B, McKay J, Peters U, Hsu L, García-Closas M, Eeles R, Chenevix-Trench G, Brennan P, Haiman C, Simard J, Easton D, Gruber S, Pharoah P, Price A, Pasaniuc B, Amos C, Kraft P, Lindström S
NAT COMMUN. 2019;10(1):431.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Johannesen K, Mitter D, Janowski R, Roth C, Toulouse J, Poulat A, Ville D, Chatron N, Brilstra E, Geleijns K, Born A, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig K, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke J, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller R
NEUROL-GENET. 2019;5(6):e373.

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
Johannsen J, Bierhals T, Deindl P, Hecher L, Hermann K, Hempel M, Kloth K, Denecke J
J PEDIATR GENET. 2019;8(4):222-225.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
Karaca E, Posey J, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms F, Meinecke P, Alawi M, Bacino C, Sutton V, Kortüm F, Lupski J
AM J MED GENET A. 2019;179(10):2056-2066.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan T, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy J, McCormick E, Hakonarson H, Falk M, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp C, Nibbeling E, Dingemans A, Douine E, Nelson S, , Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda V, Newbury-Ecob R
GENET MED. 2019;21(4):850-860.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes
Kim J, Park E, Chitayat D, Stachura D, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma J, Sinnema M, Hoeberigs C, Hempel M, Bachman K, Seeley A, Stone J, Kong H, Vukadin L, Richard A, Shinde D, McWalter K, Si Y, Douglas G, Lim S, Vissers L, Lemaire M, Ahn E
KIDNEY INT. 2019;95(6):1494-1504.

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Kloth K, Bierhals T, Johannsen J, Harms F, Juusola J, Johnson M, Grange D, Kutsche K
HUM GENET. 2019;138(6):625-634.

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
Kloth K, Renner S, Burmester G, Steinemann D, Pabst B, Lorenz B, Simon R, Kolbe V, Hempel M, Rosenberger G
CLIN GENET. 2019;96(1):85-90.

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
Kloth K, Synofzik M, Kernstock C, Schimpf-Linzenbold S, Schuettauf F, Neu A, Wissinger B, Weisschuh N
BMC MED GENET. 2019;20(1):62.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz P
AM J HUM GENET. 2019;105(2):395-402.

Hereditary Syndromes with Signs of Premature Aging
Lessel D, Kubisch C
DTSCH ARZTEBL INT. 2019;116(29-30):489-496.

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler E, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack T, Strom T, Kortüm F, Meitinger T, Muntau A, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M
DTSCH ARZTEBL INT. 2019;116(12):197-204.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Marbach F, Rustad C, Riess A, Đukić D, Hsieh T, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz P, Lessel D, Netzer C
AM J HUM GENET. 2019;104(4):749-757.

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
Mühlstädt K, De Backer J, von Kodolitsch Y, Kutsche K, Muiño Mosquera L, Brickwedel J, Girdauskas E, Mir T, Mahlmann A, Tsilimparis N, Staebler A, Schoof L, Seidel H, Berger J, Bernhardt A, Blankenberg S, Kölbel T, Detter C, Szöcs K, Kaemmerer H
J CLIN MED. 2019;8(12):.

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase
Oeckl P, Weydt P, Steinacker P, Anderl-Straub S, Nordin F, Volk A, Diehl-Schmid J, Andersen P, Kornhuber J, Danek A, Fassbender K, Fliessbach K, Jahn H, Lauer M, Müller K, Knehr A, Prudlo J, Schneider A, Thal D, Yilmazer-Hanke D, Weishaupt J, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2019;90(1):4-10.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine I, Posey J, Grochowski C, Jhangiani S, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung W, Wong B, Ortega L, Bekheirnia M, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White J, Wilichowski E, Wortmann S, Casella E, Kitajima J, Kok F, Monteiro F, Muzny D, Bamshad M, Gibbs R, Sutton V, , Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver I, Glass I, Lessel D, Lyon G, Lupski J
AM J HUM GENET. 2019;105(2):302-316.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih J, Gulec E, Yesil G, Punetha J, Ocak Z, Grochowski C, Karaca E, Albayrak H, Radhakrishnan P, Erdem H, Sahin I, Yildirim T, Bayhan I, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani S, Doddapaneni H, Hu J, Muzny D, , Boerwinkle E, Gibbs R, Tsiakas K, Hempel M, Girisha K, Gul D, Posey J, Elcioglu N, Tuysuz B, Lupski J
AM J HUM GENET. 2019;105(1):132-150.

Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Prondzynski M, Lemoine M, Zech A, Horvath A, Di Mauro V, Koivumäki J, Kresin N, Busch J, Krause T, Krämer E, Schlossarek S, Spohn M, Friedrich F, Münch J, Laufer S, Redwood C, Volk A, Hansen A, Mearini G, Catalucci D, Meyer C, Christ T, Patten M, Eschenhagen T, Carrier L
EMBO MOL MED. 2019;11(12):.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark V, Olfe J, Roser E, Seggewies F, Mahlmann A, Hempel M, Hartmann M, Hillebrand M, Wieczorek D, Volk A, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir T, von Kodolitsch Y, Kutsche K, Rosenberger G
GENET MED. 2019;21(8):1832-1841.

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
Schneeberger P, Bierhals T, Neu A, Hempel M, Kutsche K
SCI REP-UK. 2019;9(1):12516.

Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice
Schob C, Morellini F, Ohana O, Bakota L, Hrynchak M, Brandt R, Brockmann M, Cichon N, Hartung H, Hanganu-Opatz I, Kraus V, Scharf S, Herrmans-Borgmeyer I, Schweizer M, Kuhl D, Wöhr M, Vörckel K, Calzada-Wack J, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Garner C, Kreienkamp H, Kindler S
TRANSL PSYCHIAT. 2019;9(1):7.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan L, Nowak C, Douglas J, Swoboda K, Steeves M, Sahai I, Stumpel C, Stegmann A, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson W, Cohen A, Agbahovbe R, Innes A, Au P, Rankin J, Anderson I, Skinner S, Louie R, Warren H, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae J, Price S, Schnur R, Douglas G, Wentzensen I, Zweier C, Reis A, Bialer M, Moore C, Koopmans M, Brilstra E, Monroe G, van Gassen K, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr J, Wortmann S, Jakielski K, Strand E, Kloth K, Bierhals T, , Roberts J, Petrovich R, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner H, Wade P, Fisher S, Campeau P
NAT COMMUN. 2019;10(1):2079.

P539 - Case-control study of cardiovascular outcome of Loeys-Dietz versus Marfan syndrome
Szöcs K, Mühlstädt K, De Backer J, Girdauskas E, Kutsche K, Blankenberg S, von Kodolitsch Y
CLIN RES CARDIOL. 2019;2019(108 Supl 2):.

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia
Tunc S, Denecke J, Olschewski L, Bäumer T, Münchau A, Lessel D, Lohmann K
J NEUROL SCI. 2019;396:199-201.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
Velho R, Harms F, Danyukova T, Ludwig N, Friez M, Cathey S, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee K, Brammeier K, Heptinstall L, Oussoren E, van der Ploeg A, Petersen C, Alves S, Saavedra G, Schwartz I, Muschol N, Kutsche K, Pohl S
HUM MUTAT. 2019;40(7):842-864.

Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis
Verde F, Steinacker P, Weishaupt J, Kassubek J, Oeckl P, Halbgebauer S, Tumani H, von Arnim C, Dorst J, Feneberg E, Mayer B, Müller H, Gorges M, Rosenbohm A, Volk A, Silani V, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2019;90(2):157-164.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Verheije R, Kupchik G, Isidor B, Kroes H, Lynch S, Hawkes L, Hempel M, Gelb B, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj T, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom T, van Binsbergen E, Devriendt K, Breckpot J
EUR J HUM GENET. 2019;27(2):278-290.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul V, Honisch E, Klaschik K, Volk A, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler R, Hahnen E, Hauke J
BREAST CANCER RES. 2019;21(1):55.

Effects of Pharmacological Thermogenic Adipocyte Activation on Metabolism and Atherosclerotic Plaque Regression
Worthmann A, Schlein C, Berbée J, Rensen P, Heeren J, Bartelt A
NUTRIENTS. 2019;11(2):.

Analysis of shared heritability in common disorders of the brain
Anttila V, Bulik-Sullivan B, Finucane H, Walters R, Bras J, Duncan L, Escott-Price V, Falcone G, Gormley P, Malik R, Patsopoulos N, Ripke S, Wei Z, Yu D, Lee P, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze J, Duron E, Vardarajan B, Reitz C, Goate A, Huentelman M, Kamboh M, Larson E, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull W, Farrer L, Barnes L, Beach T, Demirci F, Head E, Hulette C, Jicha G, Kauwe J, Kaye J, Leverenz J, Levey A, Lieberman A, Pankratz V, Poon W, Quinn J, Saykin A, Schneider L, Smith A, Sonnen J, Stern R, Van Deerlin V, Van Eldik L, Harold D, Russo G, Rubinsztein D, Bayer A, Tsolaki M, Proitsi P, Fox N, Hampel H, Owen M, Mead S, Passmore P, Morgan K, Nöthen M, Rossor M, Lupton M, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis J, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee S, De Jager P, Geschwind D, Riemenschneider M, Riedel-Heller S, Rotter J, Ransmayr G, Hyman B, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh K, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt G, Freilinger T, Ran C, Gordon S, Borck G, Adams H, Lehtimäki T, Wedenoja J, Buring J, Schürks M, Hrafnsdottir M, Hottenga J, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin N, Montgomery G, Kurki M, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari M, Belin A, van den Maagdenberg A, Zwart J, Boomsma D, Eriksson N, Olesen J, Chasman D, Nyholt D, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino C, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro T, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz W, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller R, Molloy A, Ng P, Oliver K, Privitera M, Radtke R, Ruppert A, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya S, Smith P, Sperling M, Striano P, Surges R, Thomas G, Visscher F, Whelan C, Zara F, Heinzen E, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris H, Sharma M, Ryten M, Mok K, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen W, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton L, Huckins L, William Rayner N, Lewis C, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson J, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker J, O'Toole J, Trace S, Davis O, Helder S, Ehrlich S, Herpertz-Dahlmann B, Danner U, van Elburg A, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick D, Ripatti S, Andreassen O, Espeseth T, Lundervold A, Steen V, Pinto D, Scherer S, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi K, Mitchell J, Strober M, Bergen A, Kaye W, Szatkiewicz J, Cormand B, Ramos-Quiroga J, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz M, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades R, Banaschewski T, Franke B, Buitelaar J, Arias Vasquez A, Doyle A, Reif A, Lesch K, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt S, Dalsgaard S, Børglum A, Waldman I, Wilmot B, Molly N, Bau C, Crosbie J, Schachar R, Loo S, McGough J, Grevet E, Medland S, Robinson E, Weiss L, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck S, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca D, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze T, Thompson R, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen S, Schalling M, Jamain S, Maaser A, Fischer S, Reinbold C, Fullerton J, Guzman-Parra J, Mayoral F, Schofield P, Cichon S, Mühleisen T, Degenhardt F, Schumacher J, Bauer M, Mitchell P, Gershon E, Rice J, Potash J, Zandi P, Craddock N, Ferrier I, Alda M, Rouleau G, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski P, Cruceanu C, Jones I, Posthuma D, Andlauer T, Forstner A, Streit F, Baune B, Air T, Sinnamon G, Wray N, MacIntyre D, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp C, Hickie I, Pergadia M, Mehta D, Smit J, Jansen R, de Geus E, Dunn E, Li Q, Nauck M, Schoevers R, Beekman A, Knowles J, Viktorin A, Arnold P, Barr C, Bedoya-Berrio G, Bienvenu O, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks E, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna G, Hartmann A, Hirschtritt M, Hoekstra P, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner 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Weiser M, Cheng W, Cloninger R, Curtis D, Gejman P, Henskens F, Mattingsdal M, Oh S, Scott R, Webb B, Breen G, Churchhouse C, Bulik C, Daly M, Dichgans M, Faraone S, Guerreiro R, Holmans P, Kendler K, Koeleman B, Mathews C, Price A, Scharf J, Sklar P, Williams J, Wood N, Cotsapas C, Palotie A, Smoller J, Sullivan P, Rosand J, Corvin A, Neale B, Schott J, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg H, Murray R
SCIENCE. 2018;360(6395):1313-+.

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants
Bierhals T, Korenke G, Baethmann M, Marín L, Staudt M, Kutsche K
EUR J MED GENET. 2018;61(6):329-334.

Hot-spot KIF5A mutations cause familial ALS
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys K, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk A, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer K, Freischmidt A, Meitinger T, Strom T, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2018;141(3):688-697.

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Dadaev T, Saunders E, Newcombe P, Anokian E, Leongamornlert D, Brook M, Cieza-Borrella C, Mijuskovic M, Wakerell S, Olama A, Schumacher F, Berndt S, Benlloch S, Ahmed M, Goh C, Sheng X, Zhang Z, Muir K, Govindasami K, Lophatananon A, Stevens V, Gapstur S, Carter B, Tangen C, Goodman P, Thompson I, Batra J, Chambers S, Moya L, Clements J, Horvath L, Tilley W, Risbridger G, Gronberg H, Aly M, Nordström T, Pharoah P, Pashayan N, Schleutker J, Tammela T, Sipeky C, Auvinen A, Albanes D, Weinstein S, Wolk A, Hakansson N, West C, Dunning A, Burnet N, Mucci L, Giovannucci E, Andriole G, Cussenot O, Cancel-Tassin G, Koutros S, Freeman L, Sorensen K, Orntoft T, Borre M, Maehle L, Grindedal E, Neal D, Donovan J, Hamdy F, Martin R, Travis R, Key T, Hamilton R, Fleshner N, Finelli A, Ingles S, Stern M, Rosenstein B, Kerns S, Ostrer H, Lu Y, Zhang H, Feng N, Mao X, Guo X, Wang G, Sun Z, Giles G, Southey M, MacInnis R, FitzGerald L, Kibel A, Drake B, Vega A, Gómez-Caamaño A, Fachal L, Szulkin R, Eklund M, Kogevinas M, Llorca J, Castaño-Vinyals G, Penney K, Stampfer M, Park J, Sellers T, Lin H, Stanford J, Cybulski C, Wokolorczyk D, Lubinski J, Ostrander E, Geybels M, Nordestgaard B, Nielsen S, Weisher M, Bisbjerg R, Røder M, Iversen P, Brenner H, Cuk K, Holleczek B, Maier C, Luedeke M, Schnoeller T, Kim J, Logothetis C, John E, Teixeira M, Paulo P, Cardoso M, Neuhausen S, Steele L, Ding Y, De Ruyck K, De Meerleer G, Ost P, Razack A, Lim J, Teo S, Lin D, Newcomb L, Lessel D, Gamulin M, Kulis T, Kaneva R, Usmani N, Slavov C, Mitev V, Parliament M, Singhal S, Claessens F, Joniau S, Van den Broeck T, Larkin S, Townsend P, Aukim-Hastie C, Gago-Dominguez M, Castelao J, Martinez M, Roobol M, Jenster G, van Schaik R, Menegaux F, Truong T, Koudou Y, Xu J, Khaw K, Cannon-Albright L, Pandha H, Michael A, Kierzek A, Thibodeau S, McDonnell S, Schaid D, Lindstrom S, Turman C, Ma J, Hunter D, Riboli E, Siddiq A, Canzian F, Kolonel L, Le Marchand L, Hoover R, Machiela M, Kraft P, Freedman M, Wiklund F, Chanock S, Henderson B, Easton D, Haiman C, Eeles R, Conti D, Kote-Jarai Z
NAT COMMUN. 2018;9(1):2256.

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
Danyel M, Kortüm F, Dathe K, Kutsche K, Horn D
AM J MED GENET A. 2018;176(4):992-996.

Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls
Denk J, Oberhauser F, Kornhuber J, Wiltfang J, Fassbender K, Schroeter M, Volk A, Diehl-Schmid J, Prudlo J, Danek A, Landwehrmeyer B, Lauer M, Otto M, Jahn H
PLOS ONE. 2018;13(5):e0197329.

Recessive mutations in >VPS13D cause childhood-onset movement disorders
Gauthier J, Meijer I, Lessel D, Mencacci N, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm M, Rodan L, Karamchandani J, Carecchio M, Lubbe S, Telegrafi A, Henderson L, Lorenzo K, Wallace S, Glass I, Hamdan F, Michaud J, Rouleau G, Campeau P
ANN NEUROL. 2018;83(6):1089-1095.

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey A, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze J, Friant S, Saunier S, Rozet J, Bergmann C, Dollfus H, Muller J
HUM MUTAT. 2018;39(7):983-992.

International Union of Basic and Clinical Pharmacology. CV. Somatostatin Receptors: Structure, Function, Ligands, and New Nomenclature
Günther T, Tulipano G, Dournaud P, Bousquet C, Csaba Z, Kreienkamp H, Lupp A, Korbonits M, Castaño J, Wester H, Culler M, Melmed S, Schulz S
PHARMACOL REV. 2018;70(4):763-835.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
Harms F, Alawi M, Amor D, Tan T, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M
AM J MED GENET A. 2018;176(2):470-476.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms F, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K
AM J HUM GENET. 2018;103(4):579-591.

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
Harms F, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya F
AM J MED GENET A. 2018;176(2):477-482.

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body
Harms F, Nampoothiri S, Kortüm F, Thomas J, Panicker V, Alawi M, Altmüller J, Yesodharan D, Kutsche K
BRIT J DERMATOL. 2018;179(5):1192-1194.

Functional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic Patients
Hassani Nia F, Kreienkamp H
FRONT MOL NEUROSCI. 2018;11:268.

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber B, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk A, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler R, Hahnen E
CANCER MED-US. 2018;7(4):1349-1358.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer M, Denecke J, Santer R
NEUROGENETICS. 2018;19(3):151-156.

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C
AM J MED GENET A. 2018;176(2):438-442.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Knaus A, Pantel J, Pendziwiat M, Hajjir N, Zhao M, Hsieh T, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller R, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen H, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson P, Schelhaas H, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz P
GENOME MED. 2018;10(1):3.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Kortüm F, Jamra R, Alawi M, Berry S, Borck G, Helbig K, Tang S, Huhle D, Korenke G, Hebbar M, Shukla A, Girisha K, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke J, Kutsche K
EUR J HUM GENET. 2018;26(5):695-708.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Lessel D, Gehbauer C, Bramswig N, Schluth-Bolard C, Venkataramanappa S, van Gassen K, Hempel M, Haack T, Baresic A, Genetti C, Funari M, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke H, Lerario A, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto M, Gauthier J, Hamdan F, Laberge A, Campeau P, Louie R, Cathey S, Prinz I, Jorge A, Terhal P, Lenhard B, Wieczorek D, Strom T, Agrawal P, Britsch S, Tolosa E, Kubisch C
BRAIN. 2018;141(8):2299-2311.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Lessel D, Ozel A, Campbell S, Saadi A, Arlt M, McSweeney K, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas A, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson D, Bamshad M, Li J, Kubisch C, Glover T, Gordon L
HUM GENET. 2018;137(11-12):921-939.

Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Matejcic M, Saunders E, Dadaev T, Brook M, Wang K, Sheng X, Olama A, Schumacher F, Ingles S, Govindasami K, Benlloch S, Berndt S, Albanes D, Koutros S, Muir K, Stevens V, Gapstur S, Tangen C, Batra J, Clements J, Gronberg H, Pashayan N, Schleutker J, Wolk A, West C, Mucci L, Kraft P, Cancel-Tassin G, Sorensen K, Maehle L, Grindedal E, Strom S, Neal D, Hamdy F, Donovan J, Travis R, Hamilton R, Rosenstein B, Lu Y, Giles G, Kibel A, Vega A, Bensen J, Kogevinas M, Penney K, Park J, Stanford J, Cybulski C, Nordestgaard B, Brenner H, Maier C, Kim J, Teixeira M, Neuhausen S, De Ruyck K, Razack A, Newcomb L, Lessel D, Kaneva R, Usmani N, Claessens F, Townsend P, Dominguez M, Roobol M, Menegaux F, Khaw K, Cannon-Albright L, Pandha H, Thibodeau S, Schaid D, Wiklund F, Chanock S, Easton D, Eeles R, Kote-Jarai Z, Conti D, Haiman C
NAT COMMUN. 2018;9(1):4616.

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Meyer Zum Büschenfelde U, Brandenstein L, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K
PLOS GENET. 2018;14(5):e1007370.

Comprehensive analysis of the mutation spectrum in 301 German ALS families
Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk A, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys K, Schrank B, Sperfeld A, Hübers A, Otto M, Dorst J, Meitinger T, Strom T, Andersen P, Ludolph A, Weishaupt J
J NEUROL NEUROSUR PS. 2018;89(8):817-827.

Immortalization of common marmoset monkey fibroblasts by piggyBac transposition of hTERT
Petkov S, Kahland T, Shomroni O, Lingner T, Salinas G, Fuchs S, Debowski K, Behr R
PLOS ONE. 2018;13(9):e0204580.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
Piard J, Essien Umanah G, Harms F, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees M, Chung S, Houlden H, Verloes A, Dawson T, Dawson V, Van Maldergem L, Kutsche K
BRAIN. 2018;141(6):e50.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
Piard J, Umanah G, Harms F, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees M, Chung S, Houlden H, Verloes A, Dawson T, Dawson V, Van Maldergem L, Kutsche K
BRAIN. 2018;141(3):651-661.

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
Rosenbohm A, Hirsch S, Volk A, Grehl T, Grosskreutz J, Hanisch F, Herrmann A, Kollewe K, Kress W, Meyer T, Petri S, Prudlo J, Wessig C, Müller H, Dreyhaupt J, Weishaupt J, Kubisch C, Kassubek J, Weydt P, Ludolph A
J NEUROL. 2018;265(5):1026-1036.

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso D, Sillence D, Hisama F, Dorschner M, Martin G, Oshima J
MOL GENET GENOM MED. 2018;6(6):1148-1156.

Atrophy in the Thalamus But Not Cerebellum Is Specific forFTD and ALS Patients - An Atlas-Based Volumetric MRI Study
Schönecker S, Neuhofer C, Otto M, Ludolph A, Kassubek J, Landwehrmeyer B, Anderl-Straub S, Semler E, Diehl-Schmid J, Prix C, Vollmar C, Fortea J, Huppertz H, Arzberger T, Edbauer D, Feddersen B, Dieterich M, Schroeter M, Volk A, Fließbach K, Schneider A, Kornhuber J, Maler M, Prudlo J, Jahn H, Boeckh-Behrens T, Danek A, Klopstock T, Levin J
FRONT AGING NEUROSCI. 2018;10:45.

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
Schumacher F, Al Olama A, Berndt S, Benlloch S, Ahmed M, Saunders E, Dadaev T, Leongamornlert D, Anokian E, Cieza-Borrella C, Goh C, Brook M, Sheng X, Fachal L, Dennis J, Tyrer J, Muir K, Lophatananon A, Stevens V, Gapstur S, Carter B, Tangen C, Goodman P, Thompson I, Batra J, Chambers S, Moya L, Clements J, Horvath L, Tilley W, Risbridger G, Gronberg H, Aly M, Nordström T, Pharoah P, Pashayan N, Schleutker J, Tammela T, Sipeky C, Auvinen A, Albanes D, Weinstein S, Wolk A, Håkansson N, West C, Dunning A, Burnet N, Mucci L, Giovannucci E, Andriole G, Cussenot O, Cancel-Tassin G, Koutros S, Beane Freeman L, Sorensen K, Orntoft T, Borre M, Maehle L, Grindedal E, Neal D, Donovan J, Hamdy F, Martin R, Travis R, Key T, Hamilton R, Fleshner N, Finelli A, Ingles S, Stern M, Rosenstein B, Kerns S, Ostrer H, Lu Y, Zhang H, Feng N, Mao X, Guo X, Wang G, Sun Z, Giles G, Southey M, MacInnis R, FitzGerald L, Kibel A, Drake B, Vega A, Gómez-Caamaño A, Szulkin R, Eklund M, Kogevinas M, Llorca J, Castaño-Vinyals G, Penney K, Stampfer M, Park J, Sellers T, Lin H, Stanford J, Cybulski C, Wokolorczyk D, Lubinski J, Ostrander E, Geybels M, Nordestgaard B, Nielsen S, Weischer M, Bisbjerg R, Røder M, Iversen P, Brenner H, Cuk K, Holleczek B, Maier C, Luedeke M, Schnoeller T, Kim J, Logothetis C, John E, Teixeira M, Paulo P, Cardoso M, Neuhausen S, Steele L, Ding Y, De Ruyck K, De Meerleer G, Ost P, Razack A, Lim J, Teo S, Lin D, Newcomb L, Lessel D, Gamulin M, Kulis T, Kaneva R, Usmani N, Singhal S, Slavov C, Mitev V, Parliament M, Claessens F, Joniau S, Van den Broeck T, Larkin S, Townsend P, Aukim-Hastie C, Dominguez M, Castelao J, Martinez M, Roobol M, Jenster G, van Schaik R, Menegaux F, Truong T, Koudou Y, Xu J, Khaw K, Cannon-Albright L, Pandha H, Michael A, Thibodeau S, McDonnell S, Schaid D, Lindstrom S, Turman C, Ma J, Hunter D, Riboli E, Siddiq A, Canzian F, Kolonel L, Le Marchand L, Hoover R, Machiela M, Cui Z, Kraft P, Amos C, Conti D, Easton D, Wiklund F, Chanock S, Henderson B, Kote-Jarai Z, Haiman C, Eeles R
NAT GENET. 2018;50(7):928-936.

Integrated Molecular Characterization of Testicular Germ Cell Tumors
Shen H, Shih J, Hollern D, Wang L, Bowlby R, Tickoo S, Thorsson V, Mungall A, Newton Y, Hegde A, Armenia J, Sánchez-Vega F, Pluta J, Pyle L, Mehra R, Reuter V, Godoy G, Jones J, Shelley C, Feldman D, Vidal D, Lessel D, Kulis T, Cárcano F, Leraas K, Lichtenberg T, Brooks D, Cherniack A, Cho J, Heiman D, Kasaian K, Liu M, Noble M, Xi L, Zhang H, Zhou W, ZenKlusen J, Hutter C, Felau I, Zhang J, Schultz N, Getz G, Meyerson M, Stuart J, Akbani R, Wheeler D, Laird P, Nathanson K, Cortessis V, Hoadley K
CELL REP. 2018;23(11):3392-3406.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan L, Nowak C, Douglas J, Swoboda K, Steeves M, Sahai I, Stumpel C, Stegmann A, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson W, Cohen A, Agbahovbe R, Innes A, Au P, Rankin J, Anderson I, Skinner S, Louie R, Warren H, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae J, Price S, Schnur R, Douglas G, Wentzensen I, Zweier C, Reis A, Bialer M, Moore C, Koopmans M, Brilstra E, Monroe G, van Gassen K, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr J, Wortmann S, Jakielski K, Strand E, Kloth K, Bierhals T, , Roberts J, Petrovich R, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faive L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner H, Wade P, Fisher S, Campeau P
NAT COMMUN. 2018;9(1):4619.

Serum neurofilament light chain in behavioral variant frontotemporal dementia
Steinacker P, Anderl-Straub S, Diehl-Schmid J, Semler E, Uttner I, von Arnim C, Barthel H, Danek A, Fassbender K, Fliessbach K, Foerstl H, Grimmer T, Huppertz H, Jahn H, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Maler J, Mayer B, Oeckl P, Prudlo J, Schneider A, Volk A, Wiltfang J, Schroeter M, Ludolph A, Otto M
NEUROLOGY. 2018;91(15):E1390-E1401.

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
Volk A, Weishaupt J, Andersen P, Ludolph A, Kubisch C
MED GENET-BERLIN. 2018;30(2):252-258.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert A, Müller C, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk A, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler R, Hahnen E
BREAST CANCER RES. 2018;20(1):7.

Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 2 with Recommendations for the Therapy of Primary, Recurrent and Advanced Breast Cancer
Wöckel A, Festl J, Stüber T, Brust K, Krockenberger M, Heuschmann P, Jírů-Hillmann S, Albert U, Budach W, Follmann M, Janni W, Kopp I, Kreienberg R, Kühn T, Langer T, Nothacker M, Scharl A, Schreer I, Link H, Engel J, Fehm T, Weis J, Welt A, Steckelberg A, Feyer P, König K, Hahne A, Baumgartner T, Kreipe H, Knoefel W, Denkinger M, Brucker S, Lüftner D, Kubisch C, Gerlach C, Lebeau A, Siedentopf F, Petersen C, Bartsch H, Schulz-Wendtland R, Hahn M, Hanf V, Müller-Schimpfle M, Henscher U, Roncarati R, Katalinic A, Heitmann C, Honegger C, Paradies K, Bjelic-Radisic V, Degenhardt F, Wenz F, Rick O, Hölzel D, Zaiss M, Kemper G, Budach V, Denkert C, Gerber B, Tesch H, Hirsmüller S, Sinn H, Dunst J, Münstedt K, Bick U, Fallenberg E, Tholen R, Hung R, Baumann F, Beckmann M, Blohmer J, Fasching P, Lux M, Harbeck N, Hadji P, Hauner H, Heywang-Köbrunner S, Huober J, Hübner J, Jackisch C, Loibl S, Lück H, von Minckwitz G, Möbus V, Müller V, Nöthlings U, Schmidt M, Schmutzler R, Schneeweiss A, Schütz F, Stickeler E, Thomssen C, Untch M, Wesselmann S, Bücker A, Buck A, Stangl S
GEBURTSH FRAUENHEILK. 2018;78(11):1056-1088.

Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 1 with Recommendations for the Screening, Diagnosis and Therapy of Breast Cancer
Wöckel A, Festl J, Stüber T, Brust K, Stangl S, Heuschmann P, Albert U, Budach W, Follmann M, Janni W, Kopp I, Kreienberg R, Kühn T, Langer T, Nothacker M, Scharl A, Schreer I, Link H, Engel J, Fehm T, Weis J, Welt A, Steckelberg A, Feyer P, König K, Hahne A, Kreipe H, Knoefel W, Denkinger M, Brucker S, Lüftner D, Kubisch C, Gerlach C, Lebeau A, Siedentopf F, Petersen C, Bartsch H, Schulz-Wendtland R, Hahn M, Hanf V, Müller-Schimpfle M, Henscher U, Roncarati R, Katalinic A, Heitmann C, Honegger C, Paradies K, Bjelic-Radisic V, Degenhardt F, Wenz F, Rick O, Hölzel D, Zaiss M, Kemper G, Budach V, Denkert C, Gerber B, Tesch H, Hirsmüller S, Sinn H, Dunst J, Münstedt K, Bick U, Fallenberg E, Tholen R, Hung R, Baumann F, Beckmann M, Blohmer J, Fasching P, Lux M, Harbeck N, Hadji P, Hauner H, Heywang-Köbrunner S, Huober J, Hübner J, Jackisch C, Loibl S, Lück H, von Minckwitz G, Möbus V, Müller V, Nöthlings U, Schmidt M, Schmutzler R, Schneeweiss A, Schütz F, Stickeler E, Thomssen C, Untch M, Wesselmann S, Bücker A, Krockenberger M
GEBURTSH FRAUENHEILK. 2018;78(10):927-948.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
Xu L, Jensen H, Johnston J, Di Maria E, Kloth K, Cristea I, Sapp J, Darling T, Huryn L, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker L, Houge G, Bredrup C
AM J HUM GENET. 2018;103(6):976-983.

Molecular genetic overlap between migraine and major depressive disorder
Yang Y, Zhao H, Boomsma D, Ligthart L, Belin A, Smith G, Esko T, Freilinger T, Hansen T, Ikram M, Kallela M, Kubisch C, Paraskevi C, Strachan D, Wessman M, van den Maagdenberg A, Terwindt G, Nyholt D
EUR J HUM GENET. 2018;26(8):1202-1216.

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
Yesodharan D, Büschenfelde U, Kutsche K, Mohandas Nair K, Nampoothiri S
INDIAN J PEDIATR. 2018;85(12):1067-1072.

The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature
Bohnenpoll J, Eichler F, Schoen G, Hischke S, Denecke J, Hempel M, Kohlschütter A, Bley A
NEUROPEDIATRICS. 2017;48(S 01):26.

Differentiation of cardiomyocytes and generation of human engineered heart tissue
Breckwoldt K, Letuffe-Brenière D, Mannhardt I, Schulze T, Ulmer B, Werner T, Benzin A, Klampe B, Reinsch M, Laufer S, Shibamiya A, Prondzynski M, Mearini G, Schade D, Fuchs S, Neuber C, Krämer E, Saleem U, Schulze M, Rodriguez M, Eschenhagen T, Hansen A
NAT PROTOC. 2017;12(6):1177-1197.

Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery M, Coban-Akdemir Z, Harel T, Rosenfeld J, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani S, Schaaf C, Wangler M, Bacino C, Lewis R, Potocki L, Graham B, Belmont J, Scaglia F, Orange J, Jhangiani S, Chiang T, Doddapaneni H, Hu J, Muzny D, Xia F, Beaudet A, Boerwinkle E, Eng C, Plon S, Sutton V, Gibbs R, Posey J, Yang Y, Lupski J
GENOME MED. 2017;9(1):26.

Molecular and clinical spectra of FBXL4 deficiency
El-Hattab A, Dai H, Almannai M, Wang J, Faqeih E, Al Asmari A, Saleh M, Elamin M, Alfadhel M, Alkuraya F, Hashem M, Aldosary M, Almass R, Almutairi F, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan Z, Rahbeeni Z, Al-Muhaizea M, Makhseed N, Foskett G, Stevenson D, Gomez-Ospina N, Lee C, Boles R, Schrier Vergano S, Wortmann S, Sperl W, Opladen T, Hoffmann G, Hempel M, Prokisch H, Alhaddad B, Mayr J, Chan W, Kaya N, Wong L
HUM MUTAT. 2017;38(12):1649-1659.

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk A, Kubisch C, Heller R
HUM MOL GENET. 2017;26(20):4055-4066.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Glasgow R, Thompson K, Barbosa I, He L, Alston C, Deshpande C, Simpson M, Morris A, Neu A, Löbel U, Hall J, Prokisch H, Haack T, Hempel M, McFarland R, Taylor R
NEUROGENETICS. 2017;18(4):227-235.

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
Gripp K, Kolbe V, Brandenstein L, Rosenberger G
CLIN GENET. 2017;92(3):332-337.

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases
Groth K, Kodolitsch Y, Kutsche K, Gaustadnes M, Thorsen K, Andersen N, Gravholt C
GENET MED. 2017;19(7):772-777.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Harms F, Girisha K, Hardigan A, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird L, Ceulemans S, Bebin M, Bowling K, Hiatt S, Lose E, Primiano M, Chung W, Juusola J, Akdemir Z, Bainbridge M, Charng W, Drummond-Borg M, Eldomery M, El-Hattab A, Saleh M, Bézieau S, Cogné B, Isidor B, Küry S, Lupski J, Myers R, Cooper G, Kutsche K
AM J HUM GENET. 2017;100(1):117-127.

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
Hempel M, Casar Tena T, Diehl T, Burczyk M, Strom T, Kubisch C, Philipp M, Lessel D
HUM GENET. 2017;136(3):339-346.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Hempel M, Kremer L, Tsiakas K, Alhaddad B, Haack T, Löbel U, Feichtinger R, Sperl W, Prokisch H, Mayr J, Santer R
MITOCHONDRION. 2017.

Phenotypes and genotypes in individuals with SMC1A variants
Huisman S, Mulder P, Redeker E, Bader I, Bisgaard A, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff M, Diderich K, Elting M, van Essen A, Patrick D, Gervasini C, Gillessen-Kaesbach G, Girisha K, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser F, Kaur M, Kleefstra T, Krantz I, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon S, Oliver C, Parenti I, Pie J, Ramos F, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger T, van Balkom I, Piening S, Wierzba J, Hennekam R
AM J MED GENET A. 2017;173(8):2108-2125.

Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins
Johannsen J, Hempel M, Diehl T, Haack T, Denecke J
PEDIATR NEONATOL. 2017;58(5):458-459.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
Kloth K, Denecke J, Hempel M, Johannsen J, Strom T, Kubisch C, Lessel D
EUR J MED GENET. 2017;60(9):494-498.

Genetic diagnostics of inherited aortic diseases: Medical strategy analysis
Kodolitsch Y, Kutsche K
HERZ. 2017;42(5):459-467.

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
Kortüm F, Marquardt I, Alawi M, Korenke G, Spranger S, Meinecke P, Kutsche K
PEDIATRICS. 2017;139(1):pii: e20160550.

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance
Lang-Roth R, Fischer-Krall E, Kornblum C, Nürnberg G, Meschede D, Goebel I, Nürnberg P, Beutner D, Kubisch C, Walger M, Volk A
AUDIOL NEURO-OTOL. 2017;22(1):30-40.

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
Lehmer C, Oeckl P, Weishaupt J, Volk A, Diehl-Schmid J, Schroeter M, Lauer M, Kornhuber J, Levin J, Fassbender K, Landwehrmeyer B, Schludi M, Arzberger T, Kremmer E, Flatley A, Feederle R, Steinacker P, Weydt P, Ludolph A, Edbauer D, Otto M
EMBO MOL MED. 2017;9(7):859-868.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Lessel D, Schob C, Küry S, Reinders M, Harel T, Eldomery M, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann A, Gerkes E, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom T, Rosenfeld J, Yang Y, Posey J, Immken L, Oundjian N, Helbig K, Meeks N, Zegar K, Morton J, , Schieving J, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner H, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski J, Kreienkamp H
AM J HUM GENET. 2017;101(5):716-724.

Dysfunction of the MDM2/p53 axis is linked to premature aging
Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah M, Saha B, Hisama F, Rading K, Goebel I, Schütz P, Speit G, Högel J, Thiele H, Nürnberg G, Nürnberg P, Hammerschmidt M, Zhu Y, Tong D, Katz C, Martin G, Oshima J, Prives C, Kubisch C
J CLIN INVEST. 2017;127(10):3598-3608.

SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras
Lilja J, Zacharchenko T, Georgiadou M, Jacquemet G, Franceschi N, Peuhu E, Hamidi H, Pouwels J, Martens V, Nia F, Beifuss M, Boeckers T, Kreienkamp H, Barsukov I, Ivaska J
NAT CELL BIOL. 2017;19(4):292-305.

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
Martin S, Chamberlin A, Shinde D, Hempel M, Strom T, Schreiber A, Johannsen J, Ousager L, Larsen M, Hansen L, Fatemi A, Cohen J, Lemke J, Sørensen K, Helbig K, Lessel D, Abou Jamra R
AM J HUM GENET. 2017;101(6):1013-1020.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud M, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen M, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale C, Wanders R, Pals S, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams H, Beales P, Roepman R, Dias P, Brunner H, Cobben J, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies E, de Sousa S, Lessel D, Arts H, Kuijpers T
AM J HUM GENET. 2017;100(2):281-296.

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern
Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N
AM J MED GENET A. 2017;173(5):1334-1341.

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
Rolvien T, Butscheidt S, Jeschke A, Neu A, Denecke J, Kubisch C, Meisler M, Püschel K, Barvencik F, Yorgan T, Oheim R, Schinke T, Amling M
BONE. 2017;103:136-143.

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
Said E, Chong J, Hempel M, Denecke J, Soler P, Strom T, Nickerson D, Kubisch C, Bamshad M, Lessel D
AM J MED GENET A. 2017;173(11):3098-3103.

Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias
Steinacker P, Semler E, Anderl-Straub S, Diehl-Schmid J, Schroeter M, Uttner I, Foerstl H, Landwehrmeyer B, von Arnim C, Kassubek J, Oeckl P, Huppertz H, Fassbender K, Fliessbach K, Prudlo J, Roßmeier C, Kornhuber J, Schneider A, Volk A, Lauer M, Danek A, Ludolph A, Otto M
NEUROLOGY. 2017;88(10):961-969.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Syrbe S, Harms F, Parrini E, Montomoli M, Mütze U, Helbig K, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne H, Hoffmann G, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke G, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek N, Møller R, Koeleman B, Matsumoto N, Dobyns W, Battaglia D, Lemke J, Kutsche K, Guerrini R
BRAIN. 2017;140(9):2322-2336.

The role of de novo mutations in the development of amyotrophic lateral sclerosis
van Doormaal P, Ticozzi N, Weishaupt J, Kenna K, Diekstra F, Verde F, Andersen P, Dekker A, Tiloca C, Marroquin N, Overste D, Pensato V, Nürnberg P, Pulit S, Schellevis R, Calini D, Altmüller J, Francioli L, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph A, van den Berg L, Kubisch C, Landers J, Veldink J, Silani V, Volk A
HUM MUTAT. 2017;38(11):1534-1541.

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases
Volk A, Kubisch C
CURR OPIN NEUROL. 2017;30(5):523-528.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff M, Johannesen K, Hedrich U, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda M, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun K, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister F, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene J, Arndt D, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet K, Charles P, Moog U, Õiglane-Shlik E, Mantovani J, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke G, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig K, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke J, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller R
BRAIN. 2017;140(5):1316-1336.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama F, Ladd P, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar T, Federico A, Fox A, Grebe T, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar R, Poke G, Poot M, Posmyk R, Martin G, Kubisch C, Schindler D, Oshima J
HUM MUTAT. 2017;38(1):7-15.

Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength
Arons M, Lee K, Thynne C, Kim S, Schob C, Kindler S, Montgomery J, Garner C
J NEUROSCI. 2016;36(35):9124-34.

Severe learning deficits of IRSp53 mutant mice are caused by altered NMDA receptor dependent signal transduction
Bobsin K, Kreienkamp H
J NEUROCHEM. 2016;136(4):752-763.

NEK1 mutations in familial amyotrophic lateral sclerosis
Brenner D, Müller K, Wieland T, Weydt P, Böhm S, Lulé D, Hübers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer K, Volk A, Meitinger T, Strom T, Otto M, Kassubek J, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2016;139(Pt 5):e28.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
Daud S, Kakar N, Goebel I, Hashmi A, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl D, Wasim M, Volk A, Kubisch C, Ahmad J, Borck G
AMYOTROPH LAT SCL FR. 2016;17(3-4):260-265.

The transcriptomes of novel marmoset monkey embryonic stem cell lines reflect distinct genomic features
Debowski K, Drummer C, Lentes J, Cors M, Dressel R, Lingner T, Salinas-Riester G, Fuchs S, Sasaki E, Behr R
SCI REP-UK. 2016;6:29122.

Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon
Dunkl V, Rau I, Wunderlich G, Fink G, Lehmann H
J NEUROL SCI. 2016;367:81-2.

Involvement of astrocyte and oligodendrocyte gene sets in migraine
Eising E, de Leeuw C, Min J, Anttila V, Verheijen M, Terwindt G, Dichgans M, Freilinger T, Kubisch C, Ferrari M, Smit A, de Vries B, Palotie A, van den Maagdenberg A, Posthuma D
CEPHALALGIA. 2016;36(7):640-7.

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
Fan C, Wolking S, Lehmann-Horn F, Hedrich U, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K
CEPHALALGIA. 2016;36(13):1238-1247.

Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD
Feneberg E, Steinacker P, Volk A, Weishaupt J, Wollmer M, Boxer A, Tumani H, Ludolph A, Otto M
J NEURAL TRANSM. 2016;123(3):289-96.

Sternumaplasie (Sternal Cleft).
Gerling J, Boettcher M, Mietzsch S, Pawlik M, Klaassen I, Hempel M, Reinshagen K, Singer D
Z GEBURTSH NEONATOL. 2016;220:269-270.

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
Girisha K, Bidchol A, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K
BMC MED GENET. 2016;17:27.

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Girisha K, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani G, Kutsche K
EUR J HUM GENET. 2016;24(8):1206-10.

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Gormley P, Anttila V, Winsvold B, Palta P, Esko T, Pers T, Farh K, Cuenca-Leon E, Muona M, Furlotte N, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt G, Kallela M, Freilinger T, Ran C, Gordon S, Stam A, Steinberg S, Borck G, Koiranen M, Quaye L, Adams H, Lehtimäki T, Sarin A, Wedenoja J, Hinds D, Buring J, Schürks M, Ridker P, Hrafnsdottir M, Stefansson H, Ring S, Hottenga J, Penninx B, Färkkilä M, Artto V, Kaunisto M, Vepsäläinen S, Malik R, Heath A, Madden P, Martin N, Montgomery G, Kurki M, Kals M, Mägi R, Pärn K, Hämäläinen E, Huang H, Byrnes A, Franke L, Huang J, Stergiakouli E, Lee P, Sandor C, Webber C, Cader Z, Muller-Myhsok B, Schreiber S, Meitinger T, Eriksson J, Salomaa V, Heikkilä K, Loehrer E, Uitterlinden A, Hofman A, van Duijn C, Cherkas L, Pedersen L, Stubhaug A, Nielsen C, Männikkö M, Mihailov E, Milani L, Göbel H, Esserlind A, Christensen A, Hansen T, Werge T, Kaprio J, Aromaa A, Raitakari O, Ikram M, Spector T, Järvelin M, Metspalu A, Kubisch C, Strachan D, Ferrari M, Belin A, Dichgans M, Wessman M, van den Maagdenberg A, Zwart J, Boomsma D, Smith G, Stefansson K, Eriksson N, Daly M, Neale B, Olesen J, Chasman D, Nyholt D, Palotie A
NAT GENET. 2016;48(8):856-66.

Heterodimerization with the β1 subunit directs the α2 subunit of nitric oxide-sensitive guanylyl cyclase to calcium-insensitive cell-cell contacts in HEK293 cells: Interaction with Lin7a
Hochheiser J, Haase T, Busker M, Sömmer A, Kreienkamp H, Behrends S
BIOCHEM PHARMACOL. 2016;122:23-32.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Kim J, Shinde D, Reijnders M, Hauser N, Belmonte R, Wilson G, Bosch D, Bubulya P, Shashi V, Petrovski S, Stone J, Park E, Veltman J, Sinnema M, Stumpel C, Draaisma J, Nicolai J, Yntema H, Lindstrom K, de Vries B, Jewett T, Santoro S, Vogt J, Bachman K, Seeley A, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom T, Wieczorek D, Bramswig N, Laccone F, Behunova J, Rehder H, Gordon C, Rio M, Romana S, Tang S, El-Khechen D, Cho M, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann A, Stevens S, Zhang D, Traver D, Yao X, MacArthur D, Brunner H, Mancini G, Myers R, Owen L, Lim S, Stachura D, Vissers L, Ahn E
AM J HUM GENET. 2016;99(3):711-9.

Inositol-1,4,5-trisphosphate-3-kinase-A controls morphology of hippocampal dendritic spines
Köster J, Leggewie B, Blechner C, Brandt N, Fester L, Rune G, Schweizer M, Kindler S, Windhorst S
CELL SIGNAL. 2016;28(1):83-90.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert A, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez M, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M
GENET MED. 2016;18(12):1226-1234.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Kremer L, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann G, Strom T, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack T
AM J HUM GENET. 2016;98:358-362.

Vererbung und Genetische Tests
Kutsche K
2016. Das Marfan-Syndrom. M (Hrsg.). 1. Aufl. Springer, 47-56.

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5
Lessel D, Muhammad T, Casar Tena T, Moepps B, Burkhalter M, Hitz M, Toka O, Rentzsch A, Schubert S, Schalinski A, Bauer U, Kubisch C, Ware S, Philipp M
SCI REP-UK. 2016;6:33231.

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse
Rippe M, De Backer J, Kutsche K, Mosquera L, Schüler H, Rybczynski M, Bernhardt A, Keyser B, Hillebrand M, Mir T, Berger J, Blankenberg S, Koschyk D, von Kodolitsch Y
IJC HEART VASC. 2016;10:39–46.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients
Sadovnick A, Traboulsee A, Bernales C, Ross J, Forwell A, Yee I, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad D, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen J, Gerdes L, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl U, Zipp F, Bertram L, Lill C, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño J, Arroyo R, Garagorri A, García-Martínez A, Villar L, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied M, Zimprich A, Vilariño-Güell C
G3-GENES GENOM GENET. 2016;6(7):2073-9.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi V, Pena L, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin H, Cho M, Stong N, Hickey S, Shuss C, , Freemark M, Bellet J, Keels M, Bonner M, El-Dairi M, Butler M, Kranz P, Stumpel C, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki M, Hoischen A, Need A, Goldstein D, Kortüm F
AM J HUM GENET. 2016;99(4):991-999.

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome
Shukla A, Hebbar M, Harms F, Kadavigere R, Girisha K, Kutsche K
AM J MED GENET A. 2016;170(11):2998-3003.

Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans
Sowada N, Stiller B, Kubisch C
BIOCHEM BIOPH RES CO. 2016;476(4):528-33.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez D, Harabula I, Flöttmann R, Horn D, Chan W, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz C, Nürnberg P, Bowie J, Ahmad J, Kubisch C, Mundlos S, Borck G
GENOME RES. 2016;26(2):183-91.

Clinical and genetic diagnosis of Marfan syndrome in childhood are Equal- FBN1 mutation should not influence handling of pediatric patients with confirmed Marfansyndrome
Stark V, Arndt F, Harring G, Keyser B, von Kodolitsch Y, Kozlik-Feldmann R, Kutsche K, Müller G, Rybczynski M, Mir T
J Integr Cardiol. 2016.

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients
Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen P, von Arnim C, Böhm S, Kassubek J, Kubisch C, Lulé D, Müller H, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk A, Weydt P, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2016;87(1):12-20.

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis
Vogel M, Velleuer E, Schmidt-Jiménez L, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortüm F
AM J MED GENET A. 2016;170(7):1813-9.

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome
von Kodolitsch Y, Rybczynski M, Vogler M, Mir T, Schüler H, Kutsche K, Rosenberger G, Detter C, Bernhardt A, Larena-Avellaneda A, Kölbel T, Debus E, Schroeder M, Linke S, Fuisting B, Napp B, Kammal A, Püschel K, Bannas P, Hoffmann B, Gessler N, Vahle-Hinz E, Kahl-Nieke B, Thomalla G, Weiler-Normann C, Ohm G, Neumann S, Benninghoven D, Blankenberg S, Pyeritz R
J MULTIDISCIP HEALTH. 2016;9:587-614.

Neurofilaments levels as biomarkers in asymptomatic and symptomatic familial ALS
Weydt P, Oeckl P, Huss A, Müller K, Volk A, Kuhle J, Knehr A, Andersen P, Prudlo J, Steinacker P, Weishaupt J, Ludolph A, Otto M
ANN NEUROL. 2016;79(1):152-8.

Response to Calgani et al
Zenker M, Kutsche K
GENET MED. 2016;18(12):1321.

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups
Zhao H, Eising E, de Vries B, Vijfhuizen L, Anttila V, Winsvold B, Kurth T, Stefansson H, Kallela M, Malik R, Stam A, Ikram M, Ligthart L, Freilinger T, Alexander M, Müller-Myhsok B, Schreiber S, Meitinger T, Aromas A, Eriksson J, Boomsma D, van Duijn C, Zwart J, Quaye L, Kubisch C, Dichgans M, Wessman M, Stefansson K, Chasman D, Palotie A, Martin N, Montgomery G, Ferrari M, Terwindt G, van den Maagdenberg A, Nyholt D
CEPHALALGIA. 2016;36(7):648-57.

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K
EUR J HUM GENET. 2015;23(2):256-259.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
Ahting U, Mayr J, Vanlander A, Hardy S, Santra S, Makowski C, Alston C, Zimmermann F, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor R, Van Coster R, Freisinger P, Prokisch H, Haack T
FRONT GENET. 2015;6:123.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
Borck G, Hög F, Dentici M, Tan P, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg T, Mandriani B, Fischetto R, Morris-Rosendahl D, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C
GENOME RES. 2015;25(2):155-66.

Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting
Fischer A, Endrass T, Goebel , Reuter M, Montag C, Kubisch C, Ullsperger M
NEUROIMAGE. 2015;116:59-67.

Serotonin reuptake inhibitors and serotonin transporter genotype modulate performance monitoring functions but not their electrophysiological correlates
Fischer A, Endrass T, Reuter M, Kubisch C, Ullsperger M
J NEUROSCI. 2015;35(21):8181-90.

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani M, Dorst J, Graf E, Nordström U, Feiler M, Putz S, Boeckers T, Meyer T, Winkler A, Winkelman J, de Carvalho M, Thal D, Otto M, Brännström T, Volk A, Kursula P, Danzer K, Lichtner P, Dikic I, Meitinger T, Ludolph A, Strom T, Andersen P, Weishaupt J
NAT NEUROSCI. 2015;18(5):631-636.

Interfering with VE-PTP stabilizes endothelial junctions in vivo via Tie-2 in the absence of VE-cadherin
Frye M, Dierkes M, Küppers V, Vockel M, Tomm J, Zeuschner D, Rossaint J, Zarbock A, Koh G, Peters K, Nottebaum A, Vestweber D
J EXP MED. 2015;212(13):2267-87.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
Gripp K, Sol-Church K, Smpokou P, Graham G, Stevenson D, Hanson H, Viskochil D, Baker L, Russo B, Gardner N, Stabley D, Kolbe V, Rosenberger G
AM J MED GENET A. 2015;167A(9):2085-97.

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis
Hedergott A, Volk A, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A
GRAEF ARCH CLIN EXP. 2015;253(12):2239-2246.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel M, Cremer K, Ockeloen C, Lichtenbelt K, Herkert J, Denecke J, Haack T, Zink A, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom T, van Gassen K, Kleefstra T, Kubisch C, Engels H, Lessel D
AM J HUM GENET. 2015;97(3):493-500.

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel , Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt J, Kubisch C, Ludolph A, Volk A
NEUROBIOL AGING. 2015;36(11):Art. 3117.e1.

Sharpin Controls Osteogenic Differentiation of Mesenchymal Bone Marrow Cells
Jeschke A, Catala-Lehnen P, Sieber S, Bickert T, Schweizer M, Koehne T, Wintges K, Marshall R, Mautner A, Duchstein L, Otto B, Horst A, Amling M, Kreienkamp H, Schinke T
J IMMUNOL. 2015;195(8):3675-84.

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
Kakar N, Ahmad J, Morris-Rosendahl D, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns W, Borck G
HUM GENET. 2015;134(1):45-51.

The golgi-associated PDZ domain protein PIST/GOPC stabilizes the β1-adrenergic receptor in intracellular compartments after internalization
Koliwer J, Park M, Bauch C, von Zastrow M, Kreienkamp H
J BIOL CHEM. 2015;290(10):6120-9.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Kortüm F, Caputo V, Bauer C, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici M, Grammatico P, Korenke G, Leuzzi V, Mowat D, Nair L, Nguyen T, Thierry P, White S, Dallapiccola B, Pizzuti A, Campeau P, Tartaglia M, Kutsche K
NAT GENET. 2015;47(6):661-7.

αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Kortüm F, Harms F, Hennighausen N, Rosenberger G
PLOS ONE. 2015;10(7):e0132737.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Kratz C, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer F, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene M, Spix C, Zenker M
BRIT J CANCER. 2015;112(8):1392-7.

Radiosensitization of NSCLC cells by EGFR inhibition is the result of an enhanced p53-dependent G1 arrest
Kriegs M, Gurtner K, Can Y, Brammer I, Rieckmann T, Oertel R, Wysocki M, Dorniok F, Gal A, Grob T, Laban S, Kasten-Pisula U, Petersen C, Baumann M, Krause M, Dikomey E
RADIOTHER ONCOL. 2015;115(1):120-7.

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
Kuechler A, Altmüller J, Nürnberg P, Kotthoff S, Kubisch C, Borck G
MOL CELL PROBE. 2015;29(5):330-334.

Suppressor of cytokine signaling 1 gene mutation status as a prognostic biomarker in classical Hodgkin lymphoma
Lennerz J, Hoffmann K, Bubolz A, Lessel D, Welke C, Rüther N, Viardot A, Möller P
ONCOTARGET. 2015;6(30):29097-110.

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
Lessel D, Hisama F, Szakszon K, Saha B, Sanjuanelo A, Salbert B, Steele P, Baldwin J, Brown W, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin G, Herr A, Oshima J, Kubisch C
HUM MUTAT. 2015;36(11):1070-9.

Genome-wide significant association with seven novel multiple sclerosis risk loci
Lill C, Luessi F, Alcina A, Sokolova E, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide B, Mescheriakova J, Mashychev A, Wohlers I, Akkad D, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko A, Buttmann M, Chan A, Dörner T, Epplen J, Favorova O, Fedetz M, Fernández O, García-Martínez A, Gerdes L, Graetz C, Hartung H, Hoffjan S, Izquierdo G, Korobko D, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova N, Montalban X, Popova E, Rieckmann P, Rozhdestvenskii A, Schmied C, Smagina I, Tsareva E, Winkelmann A, Zettl U, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L
J MED GENET. 2015;52(12):848-855.

Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants
Malik R, Freilinger T, Winsvold B, Anttila V, Vander Heiden J, Traylor M, de Vries B, Holliday E, Terwindt G, Sturm J, Bis J, Hopewell J, Ferrari M, Rannikmae K, Wessman M, Kallela M, Kubisch C, Fornage M, Meschia J, Lehtimäki T, Sudlow C, Clarke R, Chasman D, Mitchell B, Maguire J, Kaprio J, Farrall M, Raitakari O, Kurth T, Ikram M, Reiner A, Longstreth W, Rothwell P, Strachan D, Sharma P, Seshadri S, Quaye L, Cherkas L, Schürks M, Rosand J, Ligthart L, Boncoraglio G, Davey Smith G, van Duijn C, Stefansson K, Worrall B, Nyholt D, Markus H, van den Maagdenberg A, Cotsapas C, Zwart J, Palotie A, Dichgans M
NEUROLOGY. 2015;84(21):2132-45.

Phenotypic and molecular insights into CASK-related disorders in males
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders C, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel C, Van Maldergem L, Kutsche K
ORPHANET J RARE DIS. 2015;10(1):44.

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies
Nyholt D, Anttila V, Winsvold B, Kurth T, Stefansson H, Kallela M, Malik R, Vries B, Terwindt G, Ikram M, Stam A, Ligthart L, Freilinger T, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Aromaa A, Eriksson J, Kaprio J, Boomsma D, Duijn C, Raitakari O, Järvelin M, Zwart J, Quaye L, Strachan D, Kubisch C, Ferrari M, van den Maagdenberg A, Dichgans M, Wessman M, Smith G, Stefansson K, Chasman D, Palotie A
CEPHALALGIA. 2015;35(6):489-99.

Ocular signs correlate well with disease severity and genotype in Fabry disease
Pitz S, Kalkum G, Arash L, Karabul N, Sodi A, Larroque S, Beck M, Gal A
PLOS ONE. 2015;10(3):Art. e0120814.

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate
Reiter R, Brosch S, Goebel , Ludwig K, Pickhard A, Högel J, Schlömer G, Mangold E, Kubisch C, Borck G
AM J MED GENET A. 2015;167(3):670-3.

EGFRvIII does not affect radiosensitivity with or without gefitinib treatment in glioblastoma cells
Struve N, Riedel M, Schulte A, Rieckmann T, Grob T, Gal A, Rothkamm K, Lamszus K, Petersen C, Dikomey E, Kriegs M
ONCOTARGET. 2015;6(32):33867-77.

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis M, Thiele H, Morlot S, Hess M, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel K, Knipper M, Bolz H
ORPHANET J RARE DIS. 2015;10:15.

Next-generation sequencing in X-linked intellectual disability
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P
EUR J HUM GENET. 2015;23(11):1513-8.

Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome
van Rahden V, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K
AM J HUM GENET. 2015;96(4):640-50.

Structure-function-behavior relationship in estrogen-induced synaptic plasticity
Vierk R, Bayer J, Freitag S, Muhia M, Kutsche K, Wolbers T, Kneussel M, Sommer-Blöchl T, Rune G
HORM BEHAV. 2015;74:139-48.

Interpretation of sequence variants of the FBN1 gene analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
von Kodolitsch Y, Kutsche K
J HUM GENET. 2015;60(9):465-466.

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing
Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G
AM J MED GENET A. 2015;167(12):3006-3010.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Aulitzky A, Friedrich K, Gläser D, Gastl R, Kubisch C, Ludolph A, Volk A
J NEUROL SCI. 2014;347(1-2):352-5.

Subcellular sorting of the G-protein coupled mouse somatostatin receptor 5 by a network of PDZ-domain containing proteins
Bauch C, Koliwer J, Buck F, Hönck H, Kreienkamp H
PLOS ONE. 2014;9(2):e88529.

RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR
Brand K, Kentsch H, Glashoff C, Rosenberger G
HUM MUTAT. 2014;35(11):1372-81.

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
Cobos P, Steglich C, Santer R, Lukacs Z, Gal A
JIMD reports. 2014.

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome
Danda S, van Rahden V, John D, Paul P, Raju R, Koshy S, Kutsche K
MOL SYNDROMOL. 2014;5(5):251-6.

Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome
de Almeida H, Rossi G, de Abreu L, Bergamaschi C, da Silva A, Kutsche K
AN BRAS DERMATOL. 2014;89(1):180-1.

A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA
Falley K, Ölschläger-Schütt J, Buck F, Richter D, Sala C, Bockmann J, Kindler S, Kreienkamp H
PLOS ONE. 2014;9(2):e88518.

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
Girisha K, Abdollahpour H, Shah H, Bhavani G, Graham J, Boggula V, Phadke S, Kutsche K
AM J MED GENET A. 2014;164A(4):1035-40.

Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes
Hillebrand M, Millot N, Sheikhzadeh S, Rybczynski M, Gerth S, Kölbel T, Keyser B, Kutsche K, Robinson P, Berger J, Mir T, Zeller T, Blankenberg S, Kodolitsch Y, Goldmann B
CLIN CARDIOL. 2014;37(11):672-679.

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil F, Pou-Serradell A, Vílchez J, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner C, Gal A, Amling M, Mundlos S, Baets J, Kurth I
BRAIN. 2014;137(3):683-92.

Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg
Kortüm F, Abdollahpour H, Alawi M, Korenke G, Seemanova E, Tinschert S, Zenker M, Rosenberger G, Kutsche K
MED GENET-BERLIN. 2014;26:246-254.

Right ventricular stroke volume variation: a tool to assess right ventricular volume responsiveness
Kubitz J, Richter H, Petersen C, Goetz A, Reuter D
MINERVA ANESTESIOL. 2014;80(9):992-995.

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Lessel D, Vaz B, Halder S, Lockhart P, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim J, Smith K, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer R, Delatycki M, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter M, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin G, Aalfs C, Oshima J, Terzic J, Amor D, Dikic I, Ramadan K, Kubisch C
NAT GENET. 2014;46(11):1239-44.

Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosis
Lill C, Schilling M, Ansaloni S, Schröder J, Jaedicke M, Luessi F, Schjeide B, Mashychev A, Graetz C, Akkad D, Gerdes L, Kroner A, Blaschke P, Hoffjan S, Winkelmann A, Dörner T, Rieckmann P, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl U, Epplen J, Zipp F, Bertram L
NEUROGENETICS. 2014;15(2):129-34.

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa
Linder B, Hirmer A, Gal A, Rüther K, Bolz H, Winkler C, Laggerbauer B, Fischer U
PLOS ONE. 2014;9(11):e111754.

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases
Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay A, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale R, Sklower Brooks S, Dziezyc K, Pollak P, Golmard J, Vidailhet M, Brice A, Roze E
NEUROLOGY. 2014;82(22):1999-2002.

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
Müller K, Andersen P, Hübers A, Marroquin N, Volk A, Danzer K, Meitinger T, Ludolph A, Strom T, Weishaupt J
BRAIN. 2014;137(Pt 12):e309.

KIT mutations in primary mediastinal B-cell lymphoma
Nagel P, Stenzinger A, Feld F, Herrmann M, Brüderlein S, Barth T, Marienfeld R, Endris V, Weichert W, Debatin K, Westhoff M, Lessel D, Möller P, Lennerz J
BLOOD CANCER J. 2014;4(8):e241.

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
Schanze D, Neubauer D, Cormier-Daire V, Delrue M, Dieux-Coeslier A, Hasegawa T, Holmberg E, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw A, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam R, Zenker M
HUM MUTAT. 2014;35(9):1092-100.

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8
Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K
CYTOGENET GENOME RES. 2014;142(1):1-6.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
Seifert W, Meinecke P, Krüger G, Rossier E, Heinritz W, Wüsthof A, Horn D
BMC MED GENET. 2014;15:127.

Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation
Sheikhzadeh S, Brockstädt L, Habermann C, Sondermann C, Bannas P, Mir T, Staebler A, Seidel H, Keyser B, Arslan-Kirchner M, Kutsche K, Berger J, Blankenberg S, Kodolitsch Y
CLIN GENET. 2014;86(6):545-551.

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation
Sheikhzadeh S, Sondermann C, Rybczynski M, Habermann C, Brockstädt L, Keyser B, Kaemmerer H, Mir T, Staebler A, Robinson P, Kutsche K, Berger J, Blankenberg S, Kodolitsch Y
CLIN GENET. 2014;86(3):238-245.

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe
Stumm M, Entezami M, Haug K, Blank C, Wüstemann M, Schulze B, Raabe-Meyer G, Hempel M, Schelling M, Ostermayer E, Langer-Freitag S, Burkhardt T, Zimmermann R, Schleicher T, Weil B, Schöck U, Smerdka P, Grömminger S, Kumar Y, Hofmann W
PRENATAL DIAG. 2014;34(2):185-91.

Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits
Utrobičić I, Novak I, Marinović-Terzić I, Matić K, Lessel D, Salamunić I, Babić M, Kunac N, Mešin A, Kubisch C, Maček B, Terzić J
NEUROSURGERY. 2014;75(3):276-85.

Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
van Rahden V, Rau I, Fuchs S, Kosyna F, de Almeida H, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer A, Zweier C, Moog U, Kutsche K
ORPHANET J RARE DIS. 2014;9(1):53.

Leukocyte extravasation and vascular permeability are each controlled in vivo by different tyrosine residues of VE-cadherin
Wessel F, Winderlich M, Holm M, Frye M, Rivera-Galdos R, Vockel M, Linnepe R, Ipe U, Stadtmann A, Zarbock A, Nottebaum A, Vestweber D
NAT IMMUNOL. 2014;15(3):223-30.

Genome-wide meta-analysis identifies new susceptibility loci for migraine
Anttila V, Winsvold B, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland S, Todt U, McArdle W, Quaye L, Koiranen M, Ikram M, Lehtimäki T, Stam A, Ligthart L, Wedenoja J, Dunham I, Neale B, Palta P, Hamalainen E, Schürks M, Rose L, Buring J, Ridker P, Steinberg S, Stefansson H, Jakobsson F, Lawlor D, Evans D, Ring S, Färkkilä M, Artto V, Kaunisto M, Freilinger T, Schoenen J, Frants R, Pelzer N, Weller C, Zielman R, Heath A, Madden P, Montgomery G, Martin N, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams F, Hartikainen A, Pouta A, van den Ende J, Uitterlinden A, Hofman A, Amin N, Hottenga J, Vink J, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann H, Aromaa A, Eriksson J, Traynor B, Trabzuni D, Rossin E, Lage K, Jacobs S, Gibbs J, Birney E, Kaprio J, Penninx B, Boomsma D, van Duijn C, Raitakari O, Jarvelin M, Zwart J, Cherkas L, Strachan D, Kubisch C, Ferrari M, van den Maagdenberg A, Dichgans M, Wessman M, Smith G, Stefansson K, Daly M, Nyholt D, Chasman D, Palotie A
NAT GENET. 2013;45(8):912-7.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman M, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G
AM J HUM GENET. 2013;93(3):524-9.

Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men
Bayer J, Rune G, Kutsche K, Schwarze U, Kalisch R, Büchel C, Sommer-Blöchl T
HIPPOCAMPUS. 2013;23(2):117-21.

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations
Bierhals T, Korenke G, Uyanik G, Kutsche K
EUR J MED GENET. 2013;56(6):325-30.

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature
Bierhals T, Maddukuri S, Kutsche K, Girisha K
AM J MED GENET A. 2013;161A(2):352-9.

Ausgewählte Ionenkanalerkrankungen des peripheren Nervensystems
Borck G, Kubisch C
MED GENET-BERLIN. 2013;25(4):448-453.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
Brownstein C, Towne M, Luquette L, Harris D, Marinakis N, Meinecke P, Kutsche K, Campeau P, Yu T, Margulies D, Agrawal P, Beggs A
EUR J MED GENET. 2013;56(12):678-82.

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
Chilian B, Abdollahpour H, Bierhals T, Haltrich I, Fekete G, Nagel I, Rosenberger G, Kutsche K
CLIN GENET. 2013;84(6):560-5.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
Cushion T, Dobyns W, Mullins J, Stoodley N, Chung S, Fry A, Hehr U, Gunny R, Aylsworth A, Prabhakar P, Uyanik G, Rankin J, Rees M, Pilz D
BRAIN. 2013;136(Pt 2):536-48.

Zerebrale Auffälligkeiten im fetalen MRT – Pränatale Diagnose einer tuberösen Sklerose
de Sousa M, Remus C, Lüttgen S, Diehl W, Hecher K, Diemert A
Z GEBURTSH NEONATOL. 2013;217(5):189-90.

Parthenogenetic stem cells for tissue-engineered heart repair
Didié M, Christalla P, Rubart M, Muppala V, Döker S, Unsöld B, El-Armouche A, Rau T, Eschenhagen T, Schwoerer A, Ehmke H, Schumacher U, Fuchs S, Lange C, Becker A, Tao W, Scherschel J, Soonpaa M, Yang T, Lin Q, Zenke M, Han D, Schöler H, Rudolph C, Steinemann D, Schlegelberger B, Kattman S, Witty A, Keller G, Field L, Zimmermann W
J CLIN INVEST. 2013;123(3):1285-98.

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients
Dobson-Stone C, Hallupp M, Loy C, Thompson E, Haan E, Sue C, Panegyres P, Razquin C, Seijo-Martínez M, Rene R, Gascon J, Campdelacreu J, Schmoll B, Volk A, Brooks W, Schofield P, Pastor P, Kwok J
PLOS ONE. 2013;8(2):e56899.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
Eisenberger T, Neuhaus C, Khan A, Decker C, Preising M, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz F, Baig S, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari S, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama J, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis J, Gal A, Bergmann C, Lorenz B, Bolz H
PLOS ONE. 2013;8(11):e78496.

The Legionella effector RidL inhibits retrograde trafficking to promote intracellular replication
Finsel I, Ragaz C, Hoffmann C, Harrison C, Weber S, van Rahden V, Johannes L, Hilbi H
CELL HOST MICROBE. 2013;14(1):38-50.

Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma
Gempt J, Baldawa S, Weirich G, Delbridge C, Hempel M, Lohse P, Meyer B, Ringel F
ACTA NEUROCHIR. 2013;155(7):1241-2.

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome
Hüning I, Kutsche K, Rajaei S, Erlandsson A, Lovmar L, Rundberg J, Stefanova M
EUR J MED GENET. 2013;56(4):188-91.

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
Ingre C, Landers J, Rizik N, Volk A, Akimoto C, Birve A, Hübers A, Keagle P, Piotrowska K, Press R, Andersen P, Ludolph A, Weishaupt J
NEUROBIOL AGING. 2013;34(6):1708.e1-6.

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
Jae L, Raaben M, Riemersma M, van Beusekom E, Blomen V, Velds A, Kerkhoven R, Carette J, Topaloglu H, Meinecke P, Wessels M, Lefeber D, Whelan S, van Bokhoven H, Brummelkamp T
SCIENCE. 2013;340(6131):479-83.

Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation
Kakar N, Ahmad J, Kubisch C, Borck G
AM J MED GENET A. 2013;161(10):2672-4.

Sorafenib sensitizes head and neck squamous cell carcinoma cells to ionizing radiation
Laban S, Steinmeister L, Gleißner L, Grob T, Grénman R, Petersen C, Gal A, Knecht R, Dikomey E, Kriegs M
RADIOTHER ONCOL. 2013;109(2):286-92.

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, Kodolitsch Y, Rosenberger G
EUR J HUM GENET. 2013;22:944-948.

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis
Lill C, Schjeide B, Graetz C, Ban M, Alcina A, Ortiz M, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad D, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen J, Fernández Ó, Gerdes L, Guillot-Noël L, Hartung H, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li S, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes L, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl U, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F
BRAIN. 2013;136(Pt 6):1778-82.

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk
Lill C, Schjeide B, Graetz C, Liu T, Damotte V, Akkad D, Blaschke P, Gerdes L, Kroner A, Luessi F, Cournu-Rebeix I, Hoffjan S, Winkelmann A, Touze E, Pico F, Corcia P, Otaegui D, Antigüedad A, Alcina A, Comabella M, Montalban X, Olascoaga J, Matesanz F, Dörner T, Li S, Steinhagen-Thiessen E, Lindenberger U, Chan A, Rieckmann P, Hartung H, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl U, Epplen J, Fontaine B, Zipp F, Vandenbroeck K, Bertram L
J MED GENET. 2013;50(3):140-3.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
Lorenz S, Lissewski C, Simsek-Kiper P, Alanay Y, Boduroglu K, Zenker M, Rosenberger G
HUM MOL GENET. 2013;22(8):1643-53.

SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region
Mameza M, Dvoretskova E, Bamann M, Hönck H, Güler T, Boeckers T, Schoen M, Verpelli C, Sala C, Barsukov I, Dityatev A, Kreienkamp H
J BIOL CHEM. 2013;288(37):26697-708.

Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons
Meseke M, Rosenberger G, Förster E
EUR J NEUROSCI. 2013;37(9):1404-12.

CASK-Related Disorders
Moog U, Uyanik G, Kutsche K
GeneReviews®. 2013.

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Piña-Aguilar R, Zaragoza-Arévalo G, Rau I, Gal A, Alcántara-Ortigoza M, López-Martínez M, Santillán-Hernández Y
EUR J MED GENET. 2013;56(3):159-162.

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry
Saha B, Lessel D, Nampoothiri S, Rao A, Hisama F, Peter D, Bennett C, Nürnberg G, Nürnberg P, Martin G, Kubisch C, Oshima J
MOL GENET GENOM MED. 2013;1(1):7-14.

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2
Salem N, Hempel M, Heiliger K, Hosie S, Meitinger T, Oexle K
AM J MED GENET A. 2013;161A(6):1421-4.

A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus release
Sauter D, Hotter D, Engelhart S, Giehler F, Kieser A, Kubisch C, Kirchhoff F
RETROVIROLOGY. 2013;10:85.

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation
Schulte E, Claussen M, Jochim A, Haack T, Hartig M, Hempel M, Prokisch H, Haun-Jünger U, Winkelmann J, Hemmer B, Förschler A, Ilg R
MOVEMENT DISORD. 2013;28(2):224-7.

Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function
Shoukier M, Fuchs S, Schwaibold E, Lingen M, Gärtner J, Brockmann K, Zirn B
NEUROPEDIATRICS. 2013;44(5):268-71.

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk A, Weishaupt J, Meyer T, Müller U, Andersen P, Ludolph A
EUR J NEUROL. 2013;20(3):540-6.

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany
Weishaupt J, Waibel S, Birve A, Volk A, Mayer B, Meyer T, Ludolph A, Andersen P
NEUROBIOL AGING. 2013;34(5):1516.e9-15.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
Wildhardt G, Zirn B, Graul-Neumann L, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D
BMJ OPEN. 2013;3(3):.

The RNA-binding protein MARTA2 regulates dendritic targeting of MAP2 mRNAs in rat neurons
Zivraj K, Rehbein M, Ölschläger-Schütt J, Schob C, Falley K, Buck F, Schweizer M, Schepis A, Kremmer E, Richter D, Kreienkamp H, Kindler S
J NEUROCHEM. 2013;124(5):670-84.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends M, Miró X, White J, Désir J, Abramowicz M, Dentici M, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp N, Estabel J, Gerdin A, Podrini C, Ingham N, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley R, Shohat M, Nürnberg P, Flint J, Steel K, Hoppe T, Kubisch C, Adams D, Borck G
AM J HUM GENET. 2012;91(6):998-1010.

Clinical utility gene card for: mucopolysaccharidosis type II.
Beck M, Wijburg F, Gal A
EUR J HUM GENET. 2012;20(1):.

Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations: hereditary persistence of α-fetoprotein is an important and benign differential diagnosis!
Bonfig W, Hempel M, Teichert-von Lüttichau I, Liptay S, Burdach S
J PEDIAT HEMATOL ONC. 2012;34(7):e301-3.

Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome
Bonfig W, Salem N, Heiliger K, Hempel M, Lederer G, Bornkamm M, Wieland K, Lohse P, Burdach S, Oexle K
J PEDIATR ENDOCR MET. 2012;25(9-10):991-5.

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
Borck G, Kakar N, Hoch J, Friedrich K, Freudenberg J, Nürnberg G, Yilmaz R, Daud S, Baloch D, Nürnberg P, Oldenburg J, Ahmad J, Kubisch C
HUM GENET. 2012;131(2):209-216.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G, Shin B, Stiller B, Mimouni-Bloch A, Thiele H, Kim J, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz C, Gothelf D, Colleaux L, Dever T, Kubisch C, Basel-Vanagaite L
MOL CELL. 2012;48(4):641-646.

Regional and subcellular distribution of the receptor-targeting protein PIST in the rat central nervous system.
Chen A, Gössling E, Witkowski L, Bhindi A, Bauch C, Roussy G, Sarret P, Kreienkamp H, Stroh T
J COMP NEUROL. 2012;520(5):889-913.

Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation.
Chua J, Schob C, Rehbein M, Gkogkas C, Richter D, Kindler S
SCI REP-UK. 2012;2:484.

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
Dalal A, Bhavani G, Lakshmi S, Bierhals T, Bierhals T, Nandineni M, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke S, Bidchol A, Rao A, Kutsche K, Kutsche K, Girisha K
AM J MED GENET A. 2012;158A(11):2820-2828.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P
NEUROGENETICS. 2012;13(3):215-227.

Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes
Edler C, Saeger W, Orth U, Braun C, Wulff B, Sperhake J
HERZ. 2012;37(4):456-60.

[Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ].
Edler C, Saeger W, Orth U, Braun C, Wulff B, Sperhake J
HERZ. 2012;37(4):456-460.

Are Dopa-responsive dystonia and Parkinson's disease related disorders?: A case report
Eggers C, Volk A, Kahraman D, Fink G, Leube B, Schmidt M, Timmermann L
PARKINSONISM RELAT D. 2012;18(5):666-8.

A phenotype map for 14q32.3 terminal deletions.
Engels H, Schüler H, Zink A, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee J, Ludwig K, Kubisch C, Schwanitz G, Weber R, Leube B, Hennekam R, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H
AM J MED GENET A. 2012;158A(4):695-706.

Genome-wide association analysis identifies susceptibility loci for migraine without aura.
Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt G, Pozo-Rosich P, Winsvold B, Nyholt D, Oosterhout v, Willebrordus P, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter M, Kaunisto M, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden A, Hofman A, Rivadeneira F, Heinze A, Tronvik E, Duijn v, Cornelia M, Kaprio J, Cormand B, Wessman M, Frants R, Meitinger T, Müller-Myhsok B, Zwart J, Färkkilä M, Kubisch C, Ferrari M, Palotie A, Dichgans M, Maagdenberg v, Arn M, Consortium I
NAT GENET. 2012;44(7):777-782.

Clinical utility gene card for: Fabry disease.
Gal A, Beck M, Winchester B
EUR J HUM GENET. 2012;20(2):.

Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly.
Ganos C, Münchau A, Holst B, Schlüter G, Gerloff C, Uyanik G
NEUROLOGY. 2012;79(16):140.

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
Gripp K, Bifeld E, Stabley D, Hopkins E, Meien S, Vinette K, Sol-Church K, Rosenberger G
AM J MED GENET A. 2012;158A(9):2106-2118.

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
Haack T, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr J, Freisinger P, Yoshimatsu H, Inui K, Strom T, Meitinger T, Yonezawa A, Prokisch H
J INHERIT METAB DIS. 2012;35(6):943-8.

Clinical utility gene card for: Werner syndrome.
Hisama F, Kubisch C, Martin G, Oshima J
EUR J HUM GENET. 2012;20(5):.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Indrieri A, van Rahden V, Alexandra V, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Kutsche K, Kutsche K, Zeviani M, Franco B
AM J HUM GENET. 2012;91(5):942-949.

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy
Jaklin C, Heiliger K, Hempel M, Sollacher D, Cohen M, Makowski C, Meitinger T, Jauch A, Oexle K
EUR J MED GENET. 2012;55(10):568-72.

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G
EUR J MED GENET. 2012;55(12):727-731.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Kim H, Kim H, Leach N, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong I, Shen Y, Talkowski M, Ruderfer D, Lee J, Glotzbach C, Ha K, Kjaergaard S, Levin A, Romeike B, Kleefstra T, Bartsch O, Elsea S, Jabs E, MacDonald M, Harris D, Quade B, Ropers H, Shaffer L, Kutsche K, Layman L, Tommerup N, Kalscheuer V, Shi Y, Morton C, Kim C, Gusella J
AM J HUM GENET. 2012;91(1):56-72.

Dendritic mRNA targeting and translation.
Kindler S, Kreienkamp H
ADV EXP MED BIOL. 2012;970:285-305.

The role of the postsynaptic density in the pathology of the fragile X syndrome.
Kindler S, Kreienkamp H
Results Probl Cell Differ. 2012;54:61-80.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, Lüttgen S, Bald R, Besoke R, Held K, Mundlos S, Kurth I
EUR J HUM GENET. 2012;20(6):705-708.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Klopocki E, Lohan S, Doelken S, Stricker S, Ockeloen C, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto R, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis S, Horn D, Mundlos S
J MED GENET. 2012;49(2):119-25.

Rare hereditary diseases with defects in DNA-repair.
Knoch J, Kamenisch Y, Kubisch C, Berneburg M
EUR J DERMATOL. 2012;22(4):443-455.

Clinical utility gene card for: adrenoleukodystrophy.
Krasemann E, Kemp S, Gal A
EUR J HUM GENET. 2012;20(3):.

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.
Lessel D, Gamulin M, Kulis T, Toliat M, Grgic M, Friedrich K, Zunec R, Balija M, Nürnberg P, Kastelan Z, Högel J, Kubisch C
CARCINOGENESIS. 2012;33(8):1548-1552.

Werner Syndrom - eine prototypische Form der segmentalen Progerie
Lessel D, Oshima J, Kubisch C
MED GENET-BERLIN. 2012;24(4):262-267.

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.
Lill C, Liu T, Schjeide B, Roehr J, Akkad D, Damotte V, Alcina A, Ortiz M, Arroyo R, Aitzkoa L, Blaschke P, Winkelmann A, Gerdes L, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P, Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren H, Li S, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Kümpfel T, Kubisch C, Zettl U, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F
J MED GENET. 2012;49(9):558-562.

Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.
Lill C, Schjeide B, Akkad D, Blaschke P, Winkelmann A, Gerdes L, Hoffjan S, Luessi F, Dörner T, Li S, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen J, Zettl U, Bertram L, Zipp F
NEUROGENETICS. 2012;13(1):83-86.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K
EUR J MED GENET. 2012;55(11):615-619.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.
Lozić B, Ljubković J, Pandurić D, Saltvig I, Kutsche K, Krželj V, Zemunik T
BRAZ J MED BIOL RES. 2012;45(12):1315-1319.

Makorin ring zinc finger protein 1 (MKRN1), a novel poly(A)-binding protein-interacting protein, stimulates translation in nerve cells.
Miroci H, Schob C, Kindler S, Ölschläger-Schütt J, Fehr S, Jungenitz T, Schwarzacher S, Bagni C, Mohr E
J BIOL CHEM. 2012;287(2):1322-1334.

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
Ramakers G, Wolfer D, Rosenberger G, Kuchenbecker K, Kreienkamp H, Prange-Kiel J, Rune G, Richter K, Langnaese K, Masneuf S, Bösl M, Fischer K, Krugers H, Lipp H, van Galen E, Kutsche K
HUM MOL GENET. 2012;21(2):268-286.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel C, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici A, Zink A, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom T
LANCET. 2012;380(9854):1674-82.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière J, Mirzaa G, O'Roak B, Beddaoui M, Alcantara D, Conway R, St-Onge J, Schwartzentruber J, Gripp K, Nikkel S, Worthylake T, Sullivan C, Ward T, Butler H, Kramer N, Albrecht B, Armour C, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet B, Innes A, Lauzon J, Lin A, Mancini G, Meschino W, Reggin J, Saggar A, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu C, Consortium F, Majewski J, Bulman D, O'Driscoll M, Shendure J, Graham J, Boycott K, Dobyns W
NAT GENET. 2012;44(8):934-940.

Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.
Schänzer A, Rau I, Kress W, Köhler A, Neubauer B, Hahn A
KLIN PADIATR. 2012;224(4):256-258.

Sharpin contributes to TNFα dependent NFκB activation and anti-apoptotic signalling in hepatocytes.
Sieber S, Lange N, Kollmorgen G, Erhardt A, Quaas A, Gontarewicz A, Sass G, Tiegs G, Kreienkamp H
PLOS ONE. 2012;7(1):29993.

Association of shank 1A scaffolding protein with cone photoreceptor terminals in the mammalian retina.
Stella S, Vila A, Hung A, Rome M, Huynh U, Sheng M, Kreienkamp H, Brecha N
PLOS ONE. 2012;7(9):43463.

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
van Rahden V, Brand K, Najm J, Heeren J, Heeren J, Braulke T, Kutsche K, Kutsche K
HUM MOL GENET. 2012;21(23):5019-5038.

Inositol-1,4,5-trisphosphate 3-kinase A regulates dendritic morphology and shapes synaptic Ca2+ transients.
Windhorst S, Minge D, Bähring R, Hüser S, Schob C, Blechner C, Lin H, Mayr G, Kindler S
CELL SIGNAL. 2012;24(3):750-757.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar M, Thoenes M, Kubisch C, Ahmad J, Bolz H
MOL VIS. 2011;17:1940-1945.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Atteeq U, Lee K, Pogoda H, Kakar N, von Ameln S, Grillet N, Hildebrand M, Ahmed Z, Nürnberg G, Ansar M, Basit S, Javed Q, Morell R, Nasreen N, Shearer A, Ahmad A, Kahrizi K, Shaikh R, Ali R, Khan S, Goebel I, Meyer N, Kimberling W, Webster J, Stephan D, Schiller M, Bahlo M, Najmabadi H, Gillespie P, Nürnberg P, Wollnik B, Riazuddin S, Smith R, Ahmad W, Müller U, Hammerschmidt M, Friedman T, Riazuddin S, Leal S, Ahmad J, Kubisch C
AM J HUM GENET. 2011;88(2):127-137.

Genome-wide association study reveals three susceptibility loci for common migraine in the general population.
Chasman D, Schürks M, Anttila V, de Vries B, Schminke U, Launer L, Terwindt G, Maagdenberg v, Arn M, Fendrich K, Völzke H, Ernst F, Griffiths L, Buring J, Kallela M, Kubisch C, Ridker P, Palotie A, Ferrari M, Hoffmann W, Zee R, Kurth T
NAT GENET. 2011;43(7):695-698.

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.
Gal A, Hughes D, Winchester B
J INHERIT METAB DIS. 2011;34(2):509-514.

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Gal A, Rau I, Leila E, Kreienkamp H, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius H, Vilhelmsen K, Schorderet D, Munier F, Ostergaard E, Thompson D, Rosenberg T
AM J HUM GENET. 2011;88(3):382-390.

Ccdc66 null mutation causes retinal degeneration and dysfunction.
Gerding W, Schreiber S, Schulte-Middelmann T, de Castro Marques A, Atorf J, Akkad D, Dekomien G, Kremers J, Dermietzel R, Gal A, Rülicke T, Ibrahim S, Epplen J, Petrasch-Parwez E
HUM MOL GENET. 2011;20(18):3620-3631.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
Hartig M, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom T, Meitinger T, Prokisch H
AM J HUM GENET. 2011;89(4):543-50.

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Hisama F, Lessel D, Leistritz D, Friedrich K, McBride K, Pastore M, Gottesman G, Saha B, Martin G, Kubisch C, Oshima J
AM J MED GENET A. 2011;155A(12):3002-3006.

N-α-acetyltransferase 10 protein suppresses cancer cell metastasis by binding PIX proteins and inhibiting Cdc42/Rac1 activity.
Hua K, Tan C, Johansson G, Lee J, Yang P, Lu H, Chen C, Su J, Chen P, Wu Y, Chi C, Kao H, Shih H, Chen M, Chien M, Chen P, Lee W, Cheng T, Rosenberger G, Chai C, Yang C, Huang M, Lai T, Chou T, Hsiao M, Kuo M
CANCER CELL. 2011;19(2):218-231.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner A, Gandia M, Frommolt P, Maak A, Wicklein E, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre L, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner C, Ignacio D, Kurth I
AM J HUM GENET. 2011;88(5):621-627.

Selective bilateral hippocampal lesions after theophylline-induced status epilepticus causes a permanent amnesic syndrome.
Kohl Z, Uyanik G, Lürding R, Schuierer G, Bogdahn U, Schröder M, Weidner N
J CLIN NEUROSCI. 2011;18(7):964-966.

Somatostatin receptor 5 is palmitoylated by the interacting ZDHHC5 palmitoyltransferase.
Kokkola T, Kruse C, Roy-Pogodzik E, Pekkinen J, Bauch C, Hönck H, Hennemann H, Kreienkamp H
FEBS LETT. 2011;585(17):2665-2670.

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
Kortüm F, Chyrek M, Fuchs S, Albrecht B, Gillessen-Kaesbach G, Mütze U, Seemanova E, Tinschert S, Wieczorek D, Rosenberger G, Kutsche K
MOL SYNDROMOL. 2011;2(1):27-34.

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Kortüm F, Das S, Flindt M, Morris-Rosendahl D, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh L, Wieczorek D, Uyanik G, Kutsche K, Dobyns W
J MED GENET. 2011;48(6):396-406.

Talipes equinovarus as leading symptom of congenital myotonic dystrophy type 2.
Kruse B, Gal A
MUSCLE NERVE. 2011;43(5):768.

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Laue K, Pogoda H, Daniel P, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray M, Breuning M, Sawyer G, Sutherland-Smith A, Nikkels P, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson S
AM J HUM GENET. 2011;89(5):595-606.

Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Hilde V, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz D, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott R, Shoukier M, Wohlleber E, Zirn B, Dobyns W, Uyanik G
J MED GENET. 2011;48(11):741-751.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T
AM J MED GENET A. 2011;155A(7):1634-1639.

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome
Oexle K, Hempel M, Jauch A, Meitinger T, Rivera-Brugués N, Stengel-Rutkowski S, Strom T
EUR J MED GENET. 2011;54(3):225-30.

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Park J, Mehta P, Cooper A, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung V, Krainc D, Mackay-Sim A, Sue C
HUM MUTAT. 2011;32(8):956-964.

Cohen syndrome diagnosis using whole genome arrays
Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici A, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann H, Meitinger T, Strom T, Hempel M
J MED GENET. 2011;48(2):136-40.

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
Ugolino J, Fang S, Kubisch C, Monteiro M
HUM MOL GENET. 2011;20(18):3565-3577.

Somatostatin inhibits cell migration and reduces cell counts of human keratinocytes and delays epidermal wound healing in an ex vivo wound model.
Vockel M, Pollok S, Breitenbach U, Ridderbusch I, Kreienkamp H, Brandner J
PLOS ONE. 2011;6(5):19740.

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
Volk A, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G, Demant A, Ivo R, Eysel P, Kubisch C, Neugebauer A
MOL VIS. 2011;17:1978-1986.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U, Uyanik G, Heck P, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul S, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl D
NEUROMUSCULAR DISORD. 2011;21(1):20-30.

Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.
Abo-Dalo B, Kutsche K, Mautner V, Kluwe L
GENE CHROMOSOME CANC. 2010;49(2):171-175.

The face of Noonan syndrome: Does phenotype predict genotype.
Allanson J, Bohring A, Dörr H, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz C, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M
AM J MED GENET A. 2010;152(8):1960-1966.

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.
Behrens M, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas C, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A
MOVEMENT DISORD. 2010;25(12):1929-1937.

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.
Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C
AM J MED GENET A. 2010;152A(8):2090-2093.

The architecture of an excitatory synapse.
Chua J, Kindler S, Boyken J, Jahn R
J CELL SCI. 2010;123(6):819-823.

A restricted spectrum of NRAS mutations causes Noonan syndrome.
Cirstea I, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts A, Lepri F, Merbitz-Zahradnik T, König R, Kratz C, Pantaleoni F, Dentici M, Joshi V, Kucherlapati R, Mazzanti L, Mundlos S, Patton M, Silengo M, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio L, Gelb B, Dallapiccola B, Wittinghofer A, Ahmadian M, Tartaglia M, Zenker M
NAT GENET. 2010;42(1):27-29.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka F, Hellenbroich Y, Kalscheuer V, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers H, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Lionel V, Kutsche K
NAT GENET. 2010;42(11):1021-1026.

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
Fabretto A, Kutsche K, Harmsen M, Demarini S, Gasparini P, Fertz M, Zenker M
EUR J MED GENET. 2010;53(5):322-324.

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Friedrich K, Lee L, Leistritz D, Nürnberg G, Saha B, Hisama F, Eyman D, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta M, Kets C, Schmidtke J, Cruz V, Akker V, Peter C, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel P, Groff-Kellermann B, Hoehn H, Kubisch C, Oshima J
HUM GENET. 2010;128(1):103-111.

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation
Girisha K, Lewis L, Phadke S, Kutsche K
AM J MED GENET A. 2010;152A(11):2861-4.

Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
Guettsches A, Kuechler A, Gal A, Schmitz W, Tegenthoff M, Vorgerd M
J NEUROL. 2010;257(8):1394-1395.

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco A, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina C, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold G, Strom T
HUM MUTAT. 2010;31(11):E1851-60.

Incontinetia pigmenti-related myopathy or unsolved "double trouble"?
Huttner H, Richter G, Jünemann A, Kress W, Weis J, Schröder J, Gal A, Doerfler A, Udd B, Schröder R
NEUROMUSCULAR DISORD. 2010;20(2):139-141.

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim H, Ahn J, Kurth I, Ullmann R, Kim H, Kulharya A, Ha K, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick D, Sherins R, Nagase T, Tekin M, Kim S, Kim C, Ropers H, Gusella J, Kalscheuer V, Choi C, Layman L
AM J HUM GENET. 2010;87(4):465-479.

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Kumar R, Pilz D, Babatz T, Cushion T, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini G, Rees M, Harvey R, Dobyns W
HUM MOL GENET. 2010;19(14):2817-2827.

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
Langmann T, Gioia D, Rau I, Rau I, Maksimovic N, Maksimovic N, Corbo J, Renner A, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Gal A, Gal A, Rivolta C
AM J HUM GENET. 2010;87(3):376-381.

Clinical, radiological and genetic aspects of leukodystrophies.
László A, Elpeleg O, Horváth K, Jakobs C, Kóbor J, Gal A, Barsi P, Kelemen A, Saracz J, Svékus A, Tegzes A, Vörös E
IDEGGYOGY SZEMLE. 2010;63(7-8):266-273.

The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice.
Leviel F, Hübner C, Houillier P, Morla L, Soumaya E, Brideau G, Hatim H, Parker M, Kurth I, Kougioumtzes A, Sinning A, Pech V, Riemondy K, Miller R, Hummler E, Shull G, Aronson P, Doucet A, Wall S, Chambrey R, Eladari D
J CLIN INVEST. 2010;120(5):1627-1635.

First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis.
Li Y, Pabst S, Kubisch C, Grohé C, Wollnik B
THORAX. 2010;65(10):939-940.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal R, von Ameln S, Baessmann I, Kandil M, Veltman J, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
AM J HUM GENET. 2010;86(3):479-484.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Bari I, Hehr U, Strahl S
NEUROLOGY. 2010;74(2):157-164.

Neuro-kardio-fazio-kutane Syndrome: Überlappende Phänotypen mit gemeinsamem molekularem Signalweg interdisziplinäres Betreuungskonzept
Mautner V, Nguyen R, Bernhardt A, Von Kodolitsch Y, Zenker M, Kutsche K
MED GENET-BERLIN. 2010;1:10-19.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl D, Segel R, Born A, Conrad C, Loeys B, Brooks S, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq M, Kraus U, Degen I, Faes F
EUR J HUM GENET. 2010;18(10):1100-1106.

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.
Steichen-Gersdorf E, Griesmaier E, Pientka F, Kotzot D, Kutsche K
CLIN DYSMORPHOL. 2010;19(2):82-84.

Somatostatin regulates tight junction function and composition in human keratinocytes.
Vockel M, Breitenbach U, Kreienkamp H, Brandner J
EXP DERMATOL. 2010;19(10):888-894.

Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance.
Winterer G, Mittelstrass K, Giegling I, Lamina C, Fehr C, Brenner H, Breitling L, Nitz B, Raum E, Müller H, Gallinat J, Gal A, Heim K, Prokisch H, Meitinger T, Hartmann A, Möller H, Gieger C, Wichmann H, Illig T, Dahmen N, Rujescu D
AM J MED GENET B. 2010;153(8):1448-1458.

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Azam M, Khan M, Gal A, Hussain A, Shah S, Khan M, Sadeque A, Bokhari H, Collin R, Orth U, Genderen v, Maria M, den Hollander A, Cremers F, Qamar R
MOL VIS. 2009;15:2526-2534.

Case report of a child with otoacoustic emissions and profound hearing loss in whom otoacoustic emissions were preserved after cochlear implantation
Beutner D, Lang-Roth R, Foerst A, Volk A, Walger M
COCHLEAR IMPLANTS IN. 2009;10(3):174-7.

RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.
Chrispell J, Feathers K, Kane M, Kim C, Brooks M, Khanna R, Kurth I, Huebner C, Gal A, Mears A, Swaroop A, Napoli J, Sparrow J, Thompson D
J BIOL CHEM. 2009.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Cordeddu V, Elia D, Pennacchio L, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio M, Martinelli S, Flex E, Lepri F, Deborah B, Kutsche K, Ferrero G, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb B, Tartaglia M
NAT GENET. 2009;41(9):1022-1026.

Kidney transplantation in patients with Fabry disease
Cybulla M, Walter K, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G
TRANSPL INT. 2009;22(4):475-481.

Missense exchanges in the TTBK2 gene mutated in SCA11.
Edener U, Kurth I, Meiner A, Hoffmann F, Hübner C, Bernard V, Gillessen-Kaesbach G, Zühlke C
J NEUROL. 2009.

Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region.
Falley K, Schütt J, Iglauer P, Menke K, Maas C, Kneussel M, Kindler S, Wouters F, Richter D, Kreienkamp H
TRAFFIC. 2009;10(7):844-857.

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.
Frio T, Panek S, Iseli C, Gioia D, Alessandro S, Gal A, Gal A, Rivolta C
MOL VIS. 2009;15:2627-2633.

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
Gremer L, Alessandro D, Merbitz-Zahradnik T, Dallapiccola B, Morlot S, Tartaglia M, Kutsche K, Ahmadian M, Rosenberger G
HUM MOL GENET. 2009.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Harmsen M, Azzarello-Burri S, González G, Mar M, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Kutsche K, Kutsche K
EUR J HUM GENET. 2009;17(10):1207-1215.

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization
Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom T
AM J MED GENET A. 2009;149A(10):2106-12.

The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.
Hentschke M, Hentschke S, Borgmeyer U, Hübner C, Kurth I
HISTOCHEM CELL BIOL. 2009.

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kötting J, Kaminsky E, Propping P, Friedl W, Aretz S
J MOL DIAGN. 2009;11(2):131-139.

Dendritic mRNA targeting of Jacob and N-methyl-d-aspartate-induced nuclear translocation after calpain-mediated proteolysis.
Kindler S, Dieterich D, Schütt J, Sahin J, Karpova A, Mikhaylova M, Schob C, Gundelfinger E, Kreienkamp H, Kreutz M
J BIOL CHEM. 2009;284(37):25431-25440.

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Kurth I, Klopocki E, Stricker S, van Oosterwijk J, Vanek S, Altmann J, Santos H, Harssel v, Jeske J, de Ravel T, Gal A, Gal A, Mundlos S
NAT GENET. 2009;41(8):862-863.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Kurth I, Pamminger T, Hennings J, Soehendra D, Huebner A, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell S, Nürnberg G, Nürnberg P, Peter D, Gal A, Kaether C, Timmerman V, Hübner C
NAT GENET. 2009;41(11):1179-1181.

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M
LANCET. 2009;374(9706):1986-1996.

Eps8 regulates axonal filopodia in hippocampal neurons in response to brain-derived neurotrophic factor (BDNF).
Menna E, Disanza A, Cagnoli C, Schenk U, Gelsomino G, Frittoli E, Hertzog M, Offenhauser N, Sawallisch C, Kreienkamp H, Gertler F, Fiore D, Paolo P, Scita G, Matteoli M
PLOS BIOL. 2009;7(6):1000138.

Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2) with nicotine addiction.
Mobascher A, Rujescu D, Mittelstraß K, Giegling I, Lamina C, Nitz B, Brenner H, Fehr C, Breitling L, Gallinat J, Rothenbacher D, Raum E, Müller H, Ruppert A, Hartmann A, Möller H, Gal A, Gieger C, Wichmann H, Illig T, Dahmen N, Winterer G
AM J MED GENET B. 2009.

NKCC1-dependent GABAergic excitation drives synaptic network maturation during early hippocampal development.
Pfeffer C, Stein V, Keating D, Maier H, Rinke I, Rudhard Y, Hentschke M, Rune G, Jentsch T, Hübner C
J NEUROSCI. 2009;29(11):3419-3430.

Dendritic assembly of heteromeric gamma-aminobutyric acid type B receptor subunits in hippocampal neurons.
Ramírez O, Vidal R, Tello J, Vargas K, Kindler S, Härtel S, Couve A
J BIOL CHEM. 2009;284(19):13077-13085.

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
Renner A, Fiebig B, Weber B, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U
AM J OPHTHALMOL. 2009;147(3):511-518.

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
Rosenberger G, Meien S, Kutsche K
HUM MUTAT. 2009;30(3):352-362.

The insulin receptor substrate of 53 kDa (IRSp53) limits hippocampal synaptic plasticity.
Sawallisch C, Berhörster K, Disanza A, Mantoani S, Kintscher M, Stoenica L, Dityatev A, Sieber S, Kindler S, Morellini F, Schweizer M, Boeckers T, Korte M, Scita G, Kreienkamp H
J BIOL CHEM. 2009;284(14):9225-9236.

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Schob C, Orth U, Gal A, Kindler S, Chakarova C, Bhattacharya S, Rüther K
OPHTHALMIC GENET. 2009;30(2):96-98.

Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities.
Schütt J, Falley K, Richter D, Kreienkamp H, Kindler S
J BIOL CHEM. 2009;284(38):25479-25487.

Interaction of the human somatostatin receptor 3 with the multiple PDZ domain protein MUPP1 enables somatostatin to control permeability of epithelial tight junctions.
Vockel M, Liew C, Glassmeier G, Brandner J, Fernandez-Ballester G, Schwarz J, Schulz S, Buck F, Serrano L, Richter D, Kreienkamp H
FEBS LETT. 2009;583(1):49-54.

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.
Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M, Kampmann C
GENET MED. 2009;11(6):441-449.

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
Abo-Dalo B, Roes M, Canún S, Delatycki M, Gillessen-Kaesbach G, Hrytsiuk I, Jung C, Kerr B, Mowat D, Seemanova E, Steiner C, Stewart H, Thierry P, van Buggenhout G, White S, Zenker M, Kutsche K
CLIN DYSMORPHOL. 2008;17(3):181-185.

Inhibition of aldehyde dehydrogenase type 2 attenuates vasodilatory action of nitroglycerin in human veins.
Huellner M, Schrepfer S, Weyand M, Weiner H, Rau I, Eschenhagen T, Rau T
FASEB J. 2008;22(7):2561-2568.

On BC1 RNA and the fragile X mental retardation protein.
Iacoangeli A, Rozhdestvensky T, Dolzhanskaya N, Tournier B, Schütt J, Brosius J, Denman R, Khandjian E, Kindler S, Tiedge H
P NATL ACAD SCI USA. 2008;105(2):734-739.

Reply to Bagni: On BC1 RNA and the fragile X mental retardation protein.
Iacoangeli A, Rozhdestvensky T, Dolzhanskaya N, Tournier B, Schütt J, Brosius J, Denman R, Khandjian E, Kindler S, Tiedge H
P NATL ACAD SCI USA. 2008;105(22):29.

Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.
Jacobs S, Ruusuvuori E, Sipilä S, Haapanen A, Damkier H, Kurth I, Hentschke M, Schweizer M, Rudhard Y, Laatikainen L, Tyynelä J, Praetorius J, Voipio J, Hübner C
P NATL ACAD SCI USA. 2008;105(1):311-316.

Onset and progression of the Anderson-Fabry disease related cardiomyopathy.
Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff C, Miebach E, Whybra C, Gal A, Bultas J, Beck M
INT J CANCER. 2008;130(3):367-373.

Disruption of neurexin 1 associated with autism spectrum disorder.
Kim H, Kishikawa S, Higgins A, Seong I, Donovan Diana J, Shen Y, Lally E, Weiss L, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris D, Noens I, Pauls D, Daly M, MacDonald M, Morton C, Quade Bradley J, Gusella J
AM J HUM GENET. 2008;82(1):199-207.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim H, Kurth I, Lan F, Meliciani I, Wenzel W, Eom S, Kang G, Rosenberger G, Tekin M, Ozata M, Bick D, Sherins R, Walker S, Shi Y, Gusella J, Layman L
AM J HUM GENET. 2008;83(4):511-519.

Scaffolding proteins at the postsynaptic density: shank as the architectural framework.
Kreienkamp H
Handb Exp Pharmacol. 2008;186:365-380.

Does proximal myotonic myopathy show anticipation?
Kruse B, Wöhrle D, Steinbach P, Gal A
HUM MUTAT. 2008;29(8):100-102.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N
HUM MUTAT. 2008;29(5):770.

AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling.
Missy K, Hu B, Schilling K, Harenberg A, Sakk V, Kuchenbecker K, Kutsche K, Fischer K
MOL CELL BIOL. 2008;28(11):3776-3789.

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl D, Najm J, Lachmeijer A, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap M, Schuierer G, Kutsche K, Uyanik G
CLIN GENET. 2008;74(5):425-433.

[Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]
Müller M, Kusserow C, Orth U, Klär-Dissars U, Laqua H, Gal A
OPHTHALMOLOGE. 2008;105(3):262-268.

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Najm J, Horn D, Rau I, Golden J, Chizhikov V, Jyotsna S, Christian S, Ullmann R, Kuechler A, Haas C, Flubacher A, Charnas L, Uyanik G, Frank U, Klopocki E, Dobyns W, Kutsche K
NAT GENET. 2008.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers F, Bergen A, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz H, Gal A, Berger W
MOL VIS. 2008;14:1081-1093.

Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.
Rohard I, Schaefer E, Kampmann C, Beck M, Gal A
J INHERIT METAB DIS. 2008.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz A, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner C, Korenke G, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
CLIN GENET. 2008;73(1):62-70.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa A, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Isabelle L, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen A, Feki I, Pasquier F, Belarbi S, Cruz V, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli F, Mhiri C, Brice A, Durr A
BRAIN. 2008;131(3):772-784.

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype
Zirn B, Hempel M, Hahn A, Neubauer B, Wagenstaller J, Rivera-Bruguès N, Strom T, Köhler A
AM J MED GENET A. 2008;146A(22):2960-5.

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
Abo-Dalo B, Kim H, Roes M, Stefanova M, Higgins A, Shen Y, Mundlos S, Quade B, Gusella J, Kutsche K
AM J MED GENET A. 2007;143(22):2668-2674.

Leukoencephalopathy upon disruption of the chloride channel ClC-2.
Blanz J, Schweizer M, Auberson M, Maier H, Münscher A, Hübner C, Jentsch T
J NEUROSCI. 2007;27(24):6581-6589.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
Chakarova C, Papaioannou M, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, El-Aziz A, Mai M, Prescott D, Parapuram S, Bickmore W, Gal A, Gal A, Hamel C, Marigo V, Ponting C, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop R, Bhattacharya S
AM J HUM GENET. 2007;81(5):1098-1103.

Interaction of brain somatostatin receptors with the PDZ domains of PSD-95.
Christenn M, Kindler S, Schulz S, Buck F, Richter D, Kreienkamp H
FEBS LETT. 2007;581(27):5173-5177.

Mechanisms of hypotonic inhibition of the sodium, proton exchanger type 1 (NHE1) in a biliary epithelial cell line (Mz-Cha-1).
Elsing C, Gosch I, Hennings J, Hübner C, Herrmann T
ACTA PHYSIOL. 2007;190(3):199-208.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis
Guenther U, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M
HUM MUTAT. 2007;28(8):808-15.

Absence of oncogenic transformation despite acquisition of cytogenetic aberrations in long-term cultured telomerase-immortalized human fetal hepatocytes.
Haker B, Fuchs S, Dierlamm J, Brümmendorf T, Wege H
CANCER LETT. 2007;256(1):120-127.

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
Hyung-Goo K, Higgins Anne W, Herrick Steven R, Kishikawa S, Nicholson L, Kutsche K, Ligon Azra H, Harris David J, Macdonald Marcy E, Bruns Gail A, Morton Cynthia C, Quade Bradley J, Gusella James F
AM J MED GENET A. 2007;143(2):107-111.

Phenotypes of female adrenoleukodystrophy.
Jung H, Rau I, Jung S, Landau K, Gal A, Heppner F
NEUROLOGY. 2007;68(12):960-961.

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
Keilhauer C, Gal A, Sold J, Zimmermann J, Netzer K, Schramm L
KLIN MONATSBL AUGENH. 2007;224(3):207-209.

Inverse agonist exposure enhances ligand binding and G protein activation of the human MT1 melatonin receptor, but leads to receptor down-regulation.
Kokkola T, Vaittinen M, Laitinen J
J PINEAL RES. 2007;43(3):255-262.

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
Kurth I, Thompson D, Rüther K, Feathers K, Chrispell J, Schroth J, McHenry C, Schweizer M, Skosyrski S, Gal A, Hübner C
MOL CELL BIOL. 2007;27(4):1370-1379.

L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Liebau M, Gal A, Superti-Furga A, Omran H, Pohl M
PEDIATR NEPHROL. 2007;22(7):1058-1061.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó M, Prieto F, Meindl A, Kutsche K, Martínez F
EUR J HUM GENET. 2007;15(1):29-34.

Expression of anion exchanger 3 influences respiratory rate in awake and isoflurane anesthetized mice.
Meier S, Hübner C, Groeben H, Peters J, Bingmann D, Wiemann M
CAN J PHYSIOL PHARM. 2007;58 Suppl 5(Pt 1):371-378.

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N
PEDIATRICS. 2007;120(5):1255-1261.

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
Rau I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K
EUR J MED GENET. 2007;50(6):421-431.

HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
Rau I, Shaw G, Kutsche K
MOL VIS. 2007;13:1475-1482.

Activation of polymorphonuclear neutrophils in patients with impaired left ventricular function.
Rudolph V, Rudolph T, Hennings J, Blankenberg S, Schnabel R, Steven D, Haddad M, Knittel K, Wende S, Wenzel J, Münzel T, Heitzer T, Meinertz T, Hübner C, Baldus S
FREE RADICAL BIO MED. 2007;43(8):1189-1196.

Plexin B3 is genetically associated with verbal performance and white matter volume in human brain.
Rujescu D, Meisenzahl E, Krejcova S, Giegling I, Zetzsche T, Reiser M, Born C, Möller H, Veske A, Gal A, Finckh U
MOL PSYCHIATR. 2007;12(2):115, 190-194.

Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice.
Rust M, Alper S, Rudhard Y, Shmukler B, Vicente R, Brugnara C, Trudel M, Jentsch T, Hübner C
J CLIN INVEST. 2007;117(6):1708-1717.

Molecular and functional characterization of Kv4.2 and KChIP2 expressed in the porcine left ventricle.
Schultz J, Volk T, Bassalaý P, Hennings J, Hübner C, Ehmke H
PFLUG ARCH EUR J PHY. 2007;454(2):195-207.

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Schuster A, Janecke A, Wilke R, Schmid E, Thompson D, Utermann G, Wissinger B, Zrenner E, Gal A
INVEST OPHTH VIS SCI. 2007;48(4):1824-1831.

C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.
Storch S, Pohl S, Quitsch A, Falley K, Braulke T
TRAFFIC. 2007;8(4):431-444.

p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
Szabo V, Kreienkamp H, Rosenberg T, Gal A
HUM MUTAT. 2007;28(7):741-742.

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
Volk A, Karbasiyan M, Semmler A, Todt U, Urbach H, Klockgether T, Linnebank M
BIRTH DEFECTS RES A. 2007;79(3):249-51.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr H, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner L, Zweier C, Bauhuber S, Matejas V, Kratz C, Thomas C, Kutsche K
J MED GENET. 2007;44(10):651-656.

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M, Lehmann K, Schulz A, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante A, Raskin S, Schnabel D, Wehner L, Kratz C, Horn D, Kutsche K
J MED GENET. 2007;44(2):131-135.

Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
Brokalaki E, Hentschke M, Grabbe S, Jansen T
EUR J MED RES. 2006;11(7):306-308.

PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation.
Gringel A, Walz D, Rosenberger G, Minden A, Kutsche K, Kopp P, Linder S
J CELL PHYSIOL. 2006;209(2):568-579.

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.
Hartwig C, Gal A, Santer R, Ullrich K, Finckh U, Kreienkamp H
FEBS LETT. 2006;580(14):3489-3492.

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.
Hentschke M, Kurth I, Borgmeyer U, Hübner C
J BIOL CHEM. 2006;281(44):33497-33504.

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.
Hentschke M, Wiemann M, Hentschke S, Kurth I, Hermans-Borgmeyer I, Seidenbecher T, Jentsch T, Gal A, Hübner C
MOL CELL BIOL. 2006;26(1):182-191.

[Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy]
Jansen T, Brokalaki E, Hillen U, Hentschke M, Grabbe S
DEUT MED WOCHENSCHR. 2006;131(28-29):1590-1593.

Telangiectasias on the neck as a presenting cutaneous sign of Fabry disease.
Jansen T, Graue N, Dissemond J, Hillen U, Hentschke M, Grabbe S
J DERMATOL. 2006;33(9):652-654.

Prevalence of uncontrolled hypertension in patients with Fabry disease.
Kleinert J, Dehout F, Schwarting A, Lorenzo d, García A, Ricci R, Kampmann C, Beck M, Ramaswami U, Gal A, Gal A, Houge G, Widmer U, Mehta A, Sunder-Plassmann G
AM J HYPERTENS. 2006;19(8):782-787.

Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring.
Kremerskothen J, Kindler S, Finger I, Veltel S, Barnekow A
J NEUROCHEM. 2006;96(6):1659-1666.

The forkhead transcription factor Foxi1 directly activates the AE4 promoter.
Kurth I, Hentschke M, Hentschke S, Borgmeyer U, Gal A, Hübner C
BIOCHEM J. 2006;393(1):277-283.

Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy
Langer S, Geigl J, Wagenstaller J, Lederer G, Hempel M, Daumer-Haas C, Leifheit H, Speicher M
AM J MED GENET A. 2006;140(7):764-8.

Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Maier E, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher A, Muntau A
Acta Paediatr Suppl. 2006;95(451):30-38.

The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody.
Martinez-Garay I, Rustom A, Gerdes H, Kutsche K
GENOMICS. 2006;87(2):243-253.

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.
Neubauer B, Stefanova I, Hübner C, Neumaier-Probst E, Bohl J, Oppermann H, Stö H, Hahn A, Stephani U, Kohlschütter A, Gal A
NEUROLOGY. 2006;67(4):587-591.

Autoantibodies against CD28 are associated with atopic diseases.
Neuber K, Mähnss B, Hübner C, Gergely H, Weichenthal M
CLIN EXP IMMUNOL. 2006;146(2):262-269.

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Poët M, Kornak U, Schweizer M, Zdebik A, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann J, Planells-Cases R, Mole S, Hübner C, Jentsch T
P NATL ACAD SCI USA. 2006;103(37):13854-13859.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
Rau I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K
AM J HUM GENET. 2006;79(5):878-889.

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
Ries M, Schaefer E, Lührs T, Mani L, Kuhn J, Vanier M, Krummenauer F, Gal A, Beck M, Mengel E
J INHERIT METAB DIS. 2006;29(5):647-652.

AlphaPIX and betaPIX and their role in focal adhesion formation
Rosenberger G, Kutsche K
EUR J CELL BIOL. 2006;85(3-4):265-274.

Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3.
Rust M, Faulhaber J, Budack M, Pfeffer C, Maritzen T, Didié M, Beck F, Boettger T, Schubert R, Ehmke H, Jentsch T, Hübner C
CIRC RES. 2006;98(4):549-556.

[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]
Rüther K, Gal A, Kohlschütter A
KLIN MONATSBL AUGENH. 2006;223(6):542-544.

Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Tomatsu S, Sukegawa K, Trandafirescu G, Gutierrez M, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Paola D, Gal A, Noguchi A, Sly W
EUR J HUM GENET. 2006;14(7):838-845.

First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.
Tomi D, Schultze-Mosgau A, Eckhold J, Schopper B, Al-Hasani S, Steglich C, Gal A, Axt-Fliedner R, Schwinger E, Diedrich K, Griesinger G
REPROD BIOMED ONLINE. 2006;12(2):215-220.

Alterations in glucose homeostasis in SSTR1 gene-ablated mice.
Wang X, Norman M, Yang J, Magnusson J, Kreienkamp H, Richter D, DeMayo F, Brunicardi F
MOL CELL ENDOCRINOL. 2006;247(1-2):82-90.

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.
Warshawsky I, Chernova O, Hübner C, Stindl R, Henneke M, Gal A, Natowicz M
CLIN CHEM. 2006;52(7):1267-1275.

IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.
Whybra C, Schwarting A, Kriegsmann J, Gal A, Mengel E, Kampmann C, Baehner F, Schaefer E, Beck M
PEDIATR NEPHROL. 2006;21(9):1251-1256.

Letzte Aktualisierung aus dem FIS: 29.11.2024 - 23:32 Uhr