Institute of Human Genetics

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 Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis (2020) Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, et al. Journal article Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration (2020) Fagerberg CR, Taylor A, Distelmaier F, Schrøder HD, Kibæk M, Wieczorek D, Tarnopolsky M, et al. Journal article Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression (2020) Craig JE, Han X, Qassim A, Hassall M, Bailey JNC, Kinzy TG, Khawaja AP, et al. Journal article