Wollnik, Bernd

Authors Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Jun 7. Abstract Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent

Authors Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G Journal Scientific Reports Citation Sci Rep. 2022 Mar 8;12(1):4091. Abstract Single cell multi-omics analysis has the potential to yield a comprehensive understanding of the cellular events that underlie the

Authors Haupt LP, Rebs S, Maurer W, Hübscher D, Tiburcy M, Pabel S, Maus A, Köhne S, Tappu R, Haas J, Li Y, Sasse A, Santos CCX, Dressel R, Wojnowski L, Bunt G, Möbius W, Shah AM, Meder B, Wollnik B, Sossalla S, Hasenfuss G, Streckfuss-Bömeke K Journal Basic Research

Authors Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Feb 26. Abstract Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of

Authors Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B Journal Human Molecular Genetics Citation Hum Mol Genet. 2022 Jan 31:ddab373. Abstract Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency, and

Authors Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B Journal European Journal of Human Genetics Citation Eur J Hum Genet. 2021 Oct 11. Abstract Variants in transcription factor p63 have been linked to several autosomal dominantly

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 Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A Journal European Journal of Medical Genetics Citation Eur J Med Genet. 2021 Aug 13:104310. Abstract MFSD2A,

Authors Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou

Authors Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K Journal Journal of Medical Genetics Citation J Med Genet. 2021 Jun 25:jmedgenet-2021-107769. Abstract Background Developmental and epileptic encephalopathies (DEEs) represent a group of