Lehrstuhl für Humangenetik

Model Testing of PluriTest with Next-Generation Sequencing Data (2016) Schulze M, Hoja S, Winner B, Winkler J, Edenhofer F, Riemenschneider MJ Journal article Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination (2016) Wu LMN, Wang J, Conidi A, Zhao C, Wang H, Ford Z, Zhang L, et al. Journal article Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 (2016) Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Hüffmeier U, Reis A, Zweier C Journal article SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss (2016) Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, et al. Journal article Kdm6b and Pmepa1 as Targets of Bioelectrically and Behaviorally Induced Activin A Signaling (2016) Link A, Kurinna S, Havlicek S, Lehnert S, Reichel M, Kornhuber J, Winner B, et al. Journal article Replication of a distinct psoriatic arthritis risk variant at the IL23R locus (2016) Budu-Aggrey A, Bowes J, Loehr S, Uebe S, Zervou MI, Helliwell P, Ryan AW, et al. Journal article Clinical delineation of the PACS1-related syndrome - Report on 19 patients (2016) Schuurs-Hoeijmakers JHM, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, et al. Journal article, Report Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients (2016) Loehr S, Uebe S, Behrens F, Boehm B, Koehm M, Traupe H, Oji V, et al. Journal article Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (2016) Mignot C, Von Stuelpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, et al. Journal article Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules (2016) Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, et al. Journal article