Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (2016) Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, et al. Journal article, Erratum 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 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 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 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 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