Lehrstuhl für Humangenetik

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 Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features (2016) Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, et al. Journal article IFN-α/IFN-λ responses to respiratory viruses in paediatric asthma (2016) Bergauer A, Sopel N, Kross B, Vuorinen T, Xepapadaki P, Weiss ST, Blau A, et al. Journal article Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (2016) Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, et al. Journal article The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? (2016) Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, et al. Journal article Leukemogenic MLL-ENL Fusions Induce Alternative Chromatin States to Drive a Functionally Dichotomous Group of Target Genes (2016) Garcia-Cuellar MP, Büttner C, Bartenhagen C, Dugas M, Slany R Journal article, Original article