Institute of Human Genetics

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A (2024) Mammadova D, Kraus C, Leis T, Popp B, Zweier C, Reis A, Trollmann R Journal article Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024) Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al. Journal article BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024) Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al. Journal article ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al. Journal article Metabolic rewiring controlled by HIF-1α tunes IgA-producing B-cell differentiation and intestinal inflammation (2024) Meng X, Asadi Asadabad S, Cao S, Song R, Lin Z, Safhi M, Qin Y, et al. Journal article Mutual Amplification of GLI2/Hedgehog and Transcription Factor JUN/AP-1 Signaling in Fibroblasts in Systemic Sclerosis: Potential Implications for Combined Therapies (2024) Bergmann C, Chenguiti Fakhouri S, Trinh-Minh T, Filla T, Rius Rigau AR, Ekici AB, Merlevede B, et al. Journal article Blockade of the CD47/SIRPα checkpoint axis potentiates the macrophage-mediated antitumor efficacy of tafasitamab. (2024) Biedermann A, Patra-Kneuer M, Mougiakakos D, Büttner-Herold M, Mangelberger-Eberl D, Berges J, Kellner C, et al. Journal article Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. (2024) Rauch A, Reis A Journal article Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1. (2024) Pauly M, Hüffmeier U, Schmitt-Haendle M Journal article Chronic silencing of subsets of cortical layer 5 pyramidal neurons has a long-term influence on the laminar distribution of parvalbumin interneurons and the perineuronal nets (2024) Szabó FP, Sigutova V, Schneider AM, Hoerder-Suabedissen A, Molnár Z Journal article