Human Genetics

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11.10.2022

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

Authors Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G Journal Human Genetics Citation Human Genetics. preprint under review. 2022 Abstract Arthrogryposis multiplex congenita forms a broad group of
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12.03.2022

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Authors Pater JA, Penney C, O’Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble
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20.09.2021

Biallelic variants in YRDC cause a developmental disorder with progeroid features

Authors Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B Journal
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08.06.2020

Bi-allelic Missense Disease-Causing Variants in RPL3L Associate Neonatal Dilated Cardiomyopathy With Muscle-Specific Ribosome Biogenesis

Authors Ganapathi M, Argyriou L, Martínez-Azorín F,  Morlot S, Yigit G, Lee TM,  Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B Journal Human Genetics Citation Hum Genet. 2020 Jun 8. Online ahead of print. Abstract Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly characterized by
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18.05.2020

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Authors Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmuller J, Nurnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S Journal Human Genetics Citation Hum Genet. Online ahead of print Abstract We report truncating de novo variants in specific exons of
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