Wollnik, Bernd

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19. September 2021
RNF43 Pathogenic Germline Variant in a Family with Colorectal Cancer
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Denae H, Vakulin C, Dubowsky A, Price TJ
13. August 2021
MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease
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
9. July 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
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 S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G
25. June 2021
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
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
21. May 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altmüller J, Nürnberg P, Längst G, Kaiser FJ, Watrin E, Brunner H, Rada-Iglesias A, Kurian L, Wollnik B, Bouazoune K, Papantonis A
25. January 2021
Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes
Peper J, Kownatzki-Danger D, Weninger G, Seibertz F, Pronto JR, Sutanto H, Pacheu Grau D, Hindmarsh R, Brandenburg S, Kohl T, Hasenfuβ G, Gotthardt M, Rog-Zielinska EA, Wollnik B, Rehling P, Urlaub H, Wegener JW, Heijman J, Voigt N, Cyganek L, Lenz C, Lehnart SE
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