Professur für Bioinformatik

Further delineation of the SCAF4-associated neurodevelopmental disorder (2024) Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, et al. Journal article Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling (2024) Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, et al. Journal article The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation (2024) Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, et al. Journal article Light-dependent regulation of neurotransmitter release from rod photoreceptor ribbon synapses involves an interplay of Complexin 4 and Transducin with the SNARE complex (2024) Lux U, Meyer J, Jahn O, Davison A, Babai N, Gießl A, Wartenberg A, et al. Journal article Patch-clamp studies and cell viability assays suggest a distinct site for viroporin inhibitors on the E protein of SARS-CoV-2 (2023) Breitinger U, Sedky CA, Sticht H, Breitinger HG Journal article De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children (2023) Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, et al. Journal article Cytomegalovirus cyclin-dependent kinase ortholog vCDK/pUL97 undergoes regulatory interaction with human cyclin H and CDK7 to codetermine viral replication efficiency (2023) Schütz M, Wangen C, Sommerer M, Kögler M, Eickhoff J, Degenhart C, Klebl B, et al. Journal article A single-nucleotide polymorphism in Helicobacter pylori promotes gastric cancer development (2023) Sharafutdinov I, Tegtmeyer-Backert N, Linz B, Rohde M, Vieth M, Tay ACY, Lamichhane B, et al. Journal article Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023) Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al. Journal article LHX2 haploinsufficiency causes a variable neurodevelopmental disorder (2023) Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, et al. Journal article