Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly (2017) Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, et al. Journal article Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer (2017) Schrauder MG, Brunel-Geuder L, Häberle L, Wunderle M, Hoyer J, Wiesmann da Silva Reis A, Schulz-Wendtland R, et al. Journal article FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum (2017) Reuter M, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, et al. Journal article Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response (2017) Berner D, Zenkel M, Pasutto F, Hoja U, Liravi P, Gusek-Schneider GC, Kruse F, et al. Journal article Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome (2017) Pasutto F, Flinter F, Rauch A, Reis A 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 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 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, Schödel J, et al. Journal article