Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

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 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 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 Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment (2015) Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, et al. Journal article Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations (2015) Kraus C, Rau T, Lux P, Erlenbach-Wuensch K, Loehr S, Krumbiegel M, Thiel C, et al. Journal article MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation (2015) Zahnleiter D, Hauer N, Keßler K, Uebe S, Sugano Y, Neuhauss SCF, Gießl A, et al. Journal article Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability (2015) Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, et al. Journal article