Institute of Human Genetics

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 De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020) Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, 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 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