Lehrstuhl für Humangenetik

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 Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum (2016) Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, et al. Journal article Genome-wide significant risk associations for mucinous ovarian carcinoma (2015) Kelemen LE, Lawrenson K, Tyrer J, Li Q, Lee JM, Seo JH, Phelan CM, et al. Journal article The clinical data intelligence project (2015) Sonntag D, Tresp V, Zillner S, Hammon M, Reis A, Fasching P, Sedlmayr M, et al. Journal article DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects (2015) Keßler K, Wunderlich I, Uebe S, Falk N, Gießl A, Brandstätter JH, Popp B, et al. Journal article Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture (2015) Stuart PE, Nair RP, Tsoi LC, Tejasvi T, Das S, Kang HM, Ellinghaus E, et al. Journal article