Institute of Human Genetics

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 Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans (2020) Schlosser P, Li Y, Sekula P, Raffler J, Grundner-Culemann F, Pietzner M, Cheng Y, et al. Journal article Modeling Cell-Cell Interactions in Parkinson's Disease Using Human Stem Cell-Based Models. (2019) Rizo Garza T, Simmnacher K, Lanfer J, Rizo T, Kaindl J, Winner B Journal article Transient receptor potential ankyrin 1 promoter methylation and peripheral pain sensitivity in Crohn's disease (2019) Gombert S, Rhein M, Winterpacht A, Münster T, Hillemacher T, Leffler A, Frieling H Journal article Advanced in early- and adult-onset glaucoma genetics (2019) Pasutto F Conference contribution The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, et al. Journal article Two truncating variants in FANCC and breast cancer risk (2019) Dork T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, et al. Journal article CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al. Journal article