Institute of Human Genetics

Developmental and Structural Alterations at the Ductus–Aortic Isthmus Interface in Infantile Coarctation of the Aorta: A Biological Basis for Persistent Vascular Disease Beyond Anatomical Repair (2026) Robl IG, Cesnjevar R, Ekici AB, Uebe S, Johann PD, Ramirez MDH, Fincke VE, et al. Journal article A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome (2026) Schuhmann S, Bosch E, Fink A, Schüssler S, Uebe S, Wiesener A, Ekici AB, et al. Journal article Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement (2026) Galassi Deforie V, Maroofian R, Karagoz I, Godwin A, Al Sheikh E, Gestri G, Zaki MS, et al. Journal article TNF alpha unmasks enteric malate aspartate shuttle dysfunction bridging Parkinson disease and intestinal inflammation (2026) Ghirotto B, Gonçalves LE, Ruder V, James C, Gerasimova E, Rizo T, Wend H, et al. Journal article Spontaneous activity in pain patient stem cell-derived sensory neurons arises from one functional subclass (2026) Eberhardt E, Namer B, Neureiter A, Körner J, Jørum E, Kurth I, Winner B, Lampert A Journal article MYH9 Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical MYH9-related Disease (2026) Pollinger L, Greve JN, Grosch M, Kaliman S, Abuhattum S, Kräter M, Brauer I, et al. Journal article Human blood vessel organoids recapitulate key mechanisms of transition from vasculopathy to fibrosis in systemic sclerosis (2026) Xiao Y, Hong X, Zhi L, Li YN, Regensburger M, Marxreiter F, Görg B, et al. Journal article Functional Characterization of POLE1 Variant Fibroblasts Reveals Replication Stress and Increased Sensitivity to Genotoxic Stress (2026) Khdeda E, Naumann-Bartsch N, Khdeda N, Cramer G, Hildebrand L, Schiller P, Wagner P, et al. Journal article ACTN4 p.Ile150Met Causes FSGS With Validation in Primary Fibroblasts and Immortalized Podocytes (2026) Grosch M, Haak J, Kolb C, Plogmann I, Guaragna MS, Wiesener A, Pasutto F, et al. Journal article Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney (2026) Loderbauer L, Knaup K, Reisenbüchler D, Kaiser N, Naas S, Schneider K, Wopperer FJ, et al. Journal article