Lehrstuhl für Humangenetik

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 Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome (2020) Argente-Escrig H, Schultheis D, Kamm L, Schowalter M, Thiel C, Türk M, Clemen CS, et al. 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 Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer (2020) Kho PF, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann M, et al. Journal article Genome-wide cooperation of EMT transcription factor ZEB1 with YAP and AP-1 in breast cancer (2020) Feldker N, Ferrazzi F, Schuhwerk H, Widholz SA, Guenther K, Frisch I, Jakob K, et al. Journal article Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants (2020) Popp B, Erber R, Kraus C, Vasileiou G, Hoyer J, Burghaus S, Hartmann A, 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 Ischemic stroke and dose adjustment of oral Factor Xa inhibitors in patients with atrial fibrillation (2020) Stoll S, Macha K, Marsch A, Gerner S, Siedler G, Fröhlich K, Volbers B, et al. Journal article