Wollnik, Bernd

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13.08.2021

MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease

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,
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09.07.2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

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
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25.06.2021

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

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
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21.05.2021

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

Authors 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,
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25.01.2021

Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes

Authors 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 Journal Circulation Research Citation
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07.12.2020

Aplasia cutis congenita in a CDC42-related developmental phenotype

Authors Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M Journal American Journal of Medical Genetics Part A Citation Am J Med Genet A. 2020 Dec 7. Abstract Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating
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07.10.2020

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Authors Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K Journal Genetics in Medicine Citation Genet Med. 2020
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28.08.2020

Premature aging disorders: A clinical and genetic compendium

Authors Schnabel F, Kornak U, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2020 Aug 28. Abstract Progeroid disorders make up a heterogeneous group of very rare hereditary diseases characterized by clinical signs that often mimic physiological aging in a premature manner. Apart from Hutchinson-Gilford progeria syndrome, one of the
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06.07.2020

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy

Authors Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, El-Battrawy I, Lan H, Tiburcy M, Hindmarsh R, Lenz C, Salinas G, Diecke S, Müller C, Adham I, Altmüller J, Nürnberg P, Paul T, Zimmermann WH, Hasenfuss G, Wollnik B, Cyganek L Journal Circulation Citation Circulation. 2020;10.1161/CIRCULATIONAHA.119.044794.
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08.06.2020

Bi-allelic Missense Disease-Causing Variants in RPL3L Associate Neonatal Dilated Cardiomyopathy With Muscle-Specific Ribosome Biogenesis

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
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