Human Genetics

Authors Schmidt J, Kaulfuß S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B Journal Human Genetics Citation Hum Genet. 2024 Jan 24. Abstract The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. Within this family,

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

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

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

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

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