Lehrstuhl für Humangenetik

Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis (2017) Brackmann F, Coras R, Rössler K, Kraus C, Rompel O, Trollmann R Journal article STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017) Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, et al. Journal article Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders (2017) Reuter M, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, Uebe S, et al. Journal article Association analysis identifies 65 new breast cancer risk loci (2017) Michailidou K, Lindstrom S, Dennis J, Beesley J, Hui S, Kar S, Lemacon A, et al. Journal article Exome Pool-Seq in neurodevelopmental disorders (2017) Popp B, Ekici AB, Thiel C, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C Journal article Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling (2017) Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, et al. Journal article Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes (2017) Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier U Journal article Oligomer-prone E57K-mutant alpha-synuclein exacerbates integration deficit of adult hippocampal newborn neurons in transgenic mice (2017) Regensburger M, Schreglmann SR, Stoll S, Rockenstein E, Loskarn S, Xiang W, Masliah E, Winner B Journal article Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1 (2017) Pasutto F, Zenkel M, Hoja U, Berner D, Uebe S, Ferrazzi F, Schoedel J, et al. Journal article Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study (2017) Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, et al. Journal article