Wollnik, Bernd

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08.05.2025

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

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
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22.04.2025

BTRR complex deficiency is a driver for genomic instability in Bloom syndrome

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
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08.04.2025

Understanding inherited cardiomyopathies: clinical aspects and genetic determinants

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
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24.03.2025

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

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
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29.01.2025

Engineered heart muscle allografts for heart repair in primates and humans

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
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15.01.2025

Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis

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
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10.09.2024

KRASG12C-inhibitor-based combination therapies for pancreatic cancer: insights from drug screening

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
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21.08.2024

Genomic and biological panoramas of non-muscle actinopathies

Authors Di Donato N, NMA Consortium, Thom A, Rump A, Greve JN, Kropp M, Cadiñanos J, Calabro S, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Guan K, Hoffjan S, Janzarik WG, Koenig M, Kreimer I, Kuenzel K, Mancini G,
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13.07.2024

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome

Authors Busley AV, Gutiérrez-Gutiérrez Ó, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, Böhmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Ahmadian MR, Wollnik B, Cyganek L Journal Cell Reports Citation Cell Rep. 2024
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03.06.2024

Catching up but still miles behind — a patient registry for otoferlin

Authors Vona B, Wollnik B, Strenzke N, Moser T Journal Experimental & Molecular Medicine Citation Exp Mol Med (2024). Abstract No abstract available. DOI 10.1038/s12276-024-01247-6   Pubmed Link
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