Lehrstuhl für Humangenetik

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 The temporal expression pattern of alpha-synuclein modulates olfactory neurogenesis in transgenic mice (2015) Schreglmann SR, Regensburger M, Rockenstein E, Masliah E, Xiang W, Winkler J, Winner B Journal article Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk (2015) Chornokur G, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Amankwah EK, Qu X, et al. Journal article