Institute of Human Genetics

Closing the gap in the clinical adoption of computational pathology: a standardized, open-source framework to integrate deep-learning models into the laboratory information system (2025) Angeloni M, Rizzi D, Schön S, Caputo A, Merolla F, Hartmann A, Ferrazzi F, Fraggetta F Journal article High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins (2025) Skowronek D, Pilz RA, Saenko VV, Mellinger L, Singer D, Ribback S, Weise A, et al. Journal article Acid sphingomyelinase activity suggests a new antipsychotic pharmaco-treatment strategy for schizophrenia (2025) Chestnykh D, Mühle C, Schumacher F, Kalinichenko L, Löber S, Gmeiner P, Alzheimer C, et al. Journal article RNA splicing modulator for Huntington's disease treatment induces peripheral neuropathy (2025) Krach F, Börstler T, Neubert S, Krumm L, Regensburger M, Winkler J, Winner B Journal article Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice (2025) Zachariae S, Quante AS, Kiechle M, Rhiem K, Fehm TN, Schröder JG, Horvath J, et al. Journal article Efficacy and safety of guselkumab in European patients with palmoplantar pustulosis: A multi-center, single-arm clinical trial (GAP study) (2025) Wilsmann-Theis D, Patt S, Pinter A, Gerdes S, Magnolo N, Németh R, Schmitz J, et al. Journal article Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2025) Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, et al. Journal article Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025) Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, et al. Journal article De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal–Hreidarsson Syndrome (2025) Braun D, Gregor A, Haubitz M, Baerlocher GM, Kraus C, Rieubland C, Zweier C Journal article The Genetics of Intelligence (2025) Reis A, Spinath FM Journal article, Review article