Institute of Human Genetics

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 Model Testing of PluriTest with Next-Generation Sequencing Data (2016) Schulze M, Hoja S, Winner B, Winkler J, Edenhofer F, Riemenschneider MJ Journal article Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination (2016) Wu LMN, Wang J, Conidi A, Zhao C, Wang H, Ford Z, Zhang L, et al. Journal article 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 Specific phenotype and function of CD56-expressing innate immune cell subsets in human thymus (2016) Gerstner S, Köhler W, Heidkamp GF, Purbojo A, Uchida S, Ekici AB, Heger L, et al. Journal article Kdm6b and Pmepa1 as Targets of Bioelectrically and Behaviorally Induced Activin A Signaling (2016) Link A, Kurinna S, Havlicek S, Lehnert S, Reichel M, Kornhuber J, Winner B, et al. Journal article Loss-of-function variants in HIVEP2 are a cause of intellectual disability (2016) Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, et al. Journal article Rhinovirus inhibits IL-17A and the downstream immune responses in allergic asthma (2016) Graser A, Ekici AB, Sopel N, Melichar VO, Zimmermann T, Papadopoulos NG, Taka S, 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