Institute of Human Genetics

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 In Vivo Protein Complementation Demonstrates Presynaptic α-Synuclein Oligomerization and Age-Dependent Accumulation of 8–16-mer Oligomer Species (2019) Kiechle M, von Einem B, Höfs L, Voehringer P, Grozdanov V, Markx D, Parlato R, et al. Journal article β1 and β3 subunits amplify mechanosensitivity of the cardiac voltage-gated sodium channel Nav1.5 (2019) Maroni M, Körner J, Schüttler J, Winner B, Lampert A, Eberhardt E Journal article Skeletal abnormalities are common features in Ayme-Gripp syndrome (2019) Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, et al. Journal article