Institute of Human Genetics

Genetic variants in the genes of the sex steroid hormone metabolism and depressive symptoms during and after pregnancy (2022) Schneider M, Pretscher J, Goecke T, Häberle L, Engel A, Kornhuber J, Eichler A, et al. Journal article Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022) van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al. Journal article Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder (2022) Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, et al. Journal article SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile (2022) Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, et al. Journal article Monitoring of direct oral anticoagulants plasma levels for secondary stroke prevention (2022) Siedler G, Macha K, Stoll S, Plechschmidt J, Wang R, Gerner S, Strasser E, et al. Journal article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021) Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al. Journal article Meta-analyses identify DNA methylation associated with kidney function and damage (2021) Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Weihs A, et al. Journal article Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus (2021) Tin A, Schlosser P, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Yu Z, et al. Journal article BDV Syndrome: An Emerging Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome (2021) Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, et al. Journal article Neonatal nephron loss during active nephrogenesis results in altered expression of renal developmental genes and markers of kidney injury (2021) Raming R, Cordasic N, Kirchner P, Ekici AB, Fahlbusch F, Wölfle J, Hilgers KF, et al. Journal article