Wollnik, Bernd

Home >> Publications >> Author >> Wollnik, Bernd >> Page 5
Feature image not available
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.
Learn More
Feature image not available
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
Learn More
Feature image not available
01.06.2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Authors Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmuller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, … Wollnik B, et al. Journal European Journal of Human Genetics Citation Eur J Hum
Learn More
Feature image not available
18.05.2020

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Authors Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmuller J, Nurnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S Journal Human Genetics Citation Hum Genet. Online ahead of print Abstract We report truncating de novo variants in specific exons of
Learn More
Feature image not available
25.03.2020

Human RAD50 deficiency: Confirmation of a distinctive phenotype

Authors Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MCY, Strom TM, Dörk T, Wollnik B, Mancini GMS Journal American Journal of Medical Genetics Part A Citation Am J Med Genet A. 2020 Jun;182(6):1378-1386. Abstract DNA double-strand breaks (DSBs) are highly toxic DNA lesions that can
Learn More
Feature image not available
10.12.2019

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

Authors Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck, BB, Nurnberg P. Dieterich C, Wollnik B, Matsumoto N, Altmuller
Learn More
Feature image not available
03.10.2019

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Authors Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li
Learn More
X
EN DE
X
X