Professur für Bioinformatik

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation (2017) Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A Journal article Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID (2017) Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, et al. Journal article AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability (2017) Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, et al. Journal article Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly (2017) Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, et al. Journal article Crystal Structure of the Extracellular Domain of the Human Dendritic Cell Surface Marker CD83 (2017) Heilingloh C, Klingl S, Egerer-Sieber C, Schmid B, Weiler S, Mühl-Zürbes P, Hofmann J, et al. Journal article, Original article Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders (2017) Reuter M, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, Uebe S, et al. Journal article Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes (2017) Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier U Journal article The genetic basis for most patients with pustular skin disease remains elusive (2017) Mössner R, Wilsmann-Theis D, Oji V, Gkogkolou P, Löhr S, Schulz P, Körber A, et al. Journal article The human cytomegalovirus nuclear egress complex unites multiple functions: Recruitment of effectors, nuclear envelope rearrangement, and docking to nuclear capsids (2017) Marschall M, Muller Y, Diewald B, Sticht H, Milbradt J Journal article, Review article A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica (2017) Lobo-Prada T, Sticht H, Bogantes-Ledezma S, Ekici AB, Uebe S, Reis A, Leal A Journal article