Wollnik, Bernd

Authors Vona B, Wollnik B, Strenzke N, Pangrsic T, Moser T Journal MedComm Citation MedComm 6, no. 9 (2025): 6, e70363. Abstract CABP2 modulates presynaptic CaV1.3 Ca2+ channel function in inner hair cells (IHCs) and is required for indefatigable synaptic sound encoding. Biallelic variants in CABP2 are associated with non-syndromic

Authors Stephani C, Ewers D, Stausberg D, Rasche D, Bahiraee A, Ahmad B, Baehr M, Downie B, Hirschel S, Pauli SJ, Riedel C, Sachkova A, Salinas G, Schneider A, van Riesen C, Wollnik B, Yigit G, Nave K, Zerr I, Eggert S, Sereda MW Journal MedRxiv Citation medRxiv 2025.09.02.25334661. Abstract

Authors Hamann TE, Wieland A, Tirincsi A, Vukusic K, Mohseni F, Wardenaar R, Losito M, Goenenc II, Wollnik B, Foijer F, Tolic IM, Storchova Z, Raschle M Journal BioRxiv Citation bioRxiv 2025.06.16.659902. Abstract The BLM helicase is a critical genome maintenance protein involved in diverse cellular processes including DNA replication,

Authors Bögershausen N, Cavdarli B, Nagai TH, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Gutiérrez-Gutiérrez Ó, Cyganek L, Saint-Dic D, Zibat A, Köhrer K, Wollenweber TE, Wieczorek D, Altmüller J, Borodina T, Kaçar D, Haliloğlu G, Li Y, Thiel C, Sacher M, Knapik EW, Yigit G, Wollnik

Authors Gönenc II, Wolff A, Busley AV, Wieland A, Tijhuis A, Müller C, Wardenaar R, Argyriou L, Kaulfuß S, Räschle M, Spierings DCJ, Foijer F, Bastians H, Yigit G, Zibat A, Cyganek L, Wollnik B Journal BioRxiv Citation bioRxiv 2025.04.17.649287. Abstract Biallelic loss-of-function (LoF) variants in the BTRR complex members

Authors Yigit G, Kaulfuß S, Wollnik B Journal Medizinische Genetik Citation Med Genet. 2025 Apr 8;37(2):103-111. Abstract Cardiomyopathies (CMs) are a clinically heterogeneous group of cardiovascular diseases characterized by structural and functional abnormalities of the heart muscle in the absence of coronary artery disease, hypertension, valve disease, or congenital heart

Authors Cuinat S, Chatron N, Petit F, Brunelle P, Dincuff E, Aubert Mucca M, Bieth E, Schmetz A, Rieder H, Wollnik B, Kaulfuß S, Yigit G, McKeown C, Savage T, Mulligan MR, Bicknell LS, Corsten-Janssen N, Edery P, Lesca G, de Villartay JP, Putoux A Journal European Journal of Human

Authors Jebran AF, Seidler T, Tiburcy M, Daskalaki M, Kutschka I, Fujita B, Ensminger S, Bremmer F, Moussavi A, Yang H, Qin X, Mißbach S, Drummer C, Baraki H, Boretius S, Hasenauer C, Nette T, Kowallick J, Ritter CO, Lotz J, Didié M, Mietsch M, Meyer T, Kensah G, Krüger

Authors Unal E, Tekmenuray-Unal A, Cayir A, Papatya Cakir ED, Beyazit N, Kolbasi B, Gurpinar Tosun B, Yigit G, Zibat A, Wollnik B, Demirbilek H, Guran T Journal The Journal of Clinical Endocrinology and Metabolism Citation J Clin Endocrinol Metab. 2025 Jan 15:dgaf020. Abstract Context: Duplications occurring upstream of the

Authors Tapia Contreras C, Falke JD, Seifert DM, Schneider C, Krauß L, Fang X, Müller D, Demirdizen E, Spitzner M, De Oliveira T, Schneeweis C, Gaedcke J, Kaulfuß S, Mirzakhani K, Wollnik B, Conrads K, Beißbarth T, Salinas G, Hügel J, Beyer N, Rheinländer S, Sax U, Wirth M, Conradi