Christiane Zweier

Medizinische Fakultät

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Uebe S, Ekici AB, Trollmann R, et al. Journal article Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020) Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al. Journal article Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations (2020) Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M Journal article Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2020) Straub J, Gregor A, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, et al. Journal article Genetic and phenotypic spectrum associated with IFIH1 gain-of-function (2020) Rice G, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, et al. Journal article De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females (2020) Polla DL, Bhoj EJ, Verheij JB, Wassink-Ruiter JS, Reis A, Deshpande C, Gregor A, et al. Journal article New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, et al. Journal article A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy (2020) Kasper B, Kraus C, Schwarz M, Rösch J, Thiel C, Reis A, Zweier C Journal article 7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder (2020) Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C Journal article Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing (2020) Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, et al. Journal article