Dr. rer. nat. Cornelia Kraus

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Institute of Human Genetics

Publications

(27)

Detection rate and re-analysis of exome sequencing data in a cohort of 207 individuals with neurodevelopmental disorders (2020) Hebebrand M, Thiel CT, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020) Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R Conference contribution A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C Conference contribution 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 Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature (2020) Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, et al. Journal article Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study (2020) Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, et al. Journal article Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1 (2020) Münch J, Kirschner KM, Schlee H, Kraus C, Schönauer R, Jin W, Le Duc GD, et al. Journal article

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