Institute of Human Genetics

Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020) Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R Conference contribution Deletion 7q31.2q31.31 segregating in a family with speech and language deficiencies (2020) Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C Conference contribution A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C Conference contribution Enriched environment ameliorates adult hippocampal neurogenesis deficits in Tcf4 haploinsufficient mice (2020) Braun K, Häberle B, Wittmann MT, Lie DC Journal article Loss of PHF6 leads to aberrant development of human neuron-like cells (2020) Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C Journal article Unique signatures of stress-induced senescent human astrocytes (2020) Simmnacher K, Krach F, Schneider Y, Alecu JE, Mautner L, Klein P, Roybon L, et al. Journal article HLA-G and HLA-F protein isoform expression in breast cancer patients receiving neoadjuvant treatment (2020) Würfel F, Hübner H, Häberle L, Gaß P, Hein A, Jud S, Hack C, et al. Journal article Author Correction: A monocyte gene expression signature in the early clinical course of Parkinson’s disease (Scientific Reports, (2018), 8, 1, (10757), 10.1038/s41598-018-28986-7) (2020) Schlachetzki J, Prots I, Tao J, Chun HB, Saijo K, Gosselin D, Winner B, et al. Journal article, Erratum Intracellular A53T Mutant α-Synuclein Impairs Adult Hippocampal Newborn Neuron Integration (2020) Regensburger M, Stemick J, Masliah E, Kohl Z, Winner B Journal article QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum (2020) Foehrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, et al. Journal article