Institute of Human Genetics


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Genetic liability to psoriasis predicts severe disease outcomes (2026) Saklatvala JR, Lessard S, Teder-Laving M, Thomas LF, Ramessur R, Zierer J, Åsvold BO, et al. Journal article Adgrg6/Gpr126 is required for compact wall integrity and establishing trabecular identity during cardiac trabeculation (2026) Srivastava S, Gunawan F, Vergarajauregui S, Gentile A, Angeloni M, Petersen SC, Günther S, et al. 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 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 Genetic basis of chronic nonbacterial osteomyelitis Genetischer Hintergrund der chronischen nichtbakteriellen Osteomyelitis (2026) Hayatu MD, Hüffmeier U Journal article Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries (2026) Taxer K, Wimmer K, Wadt K, Schnaiter S, Rudnik S, Zschocke J, Vetti HH, et al. Journal article Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia (2026) Mignot C, Papathanasiou Terzi MA, Ravelli C, Bosch E, Lin X, Trauffler A, Caumes R, et al. Journal article Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (European Journal of Human Genetics, (2025), 33, 8, (989-996), 10.1038/s41431-025-01884-z) (2026) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsma EK, et al. Journal article, Erratum Prognostic value of the tumor immune microenvironment, PD-L1 and p16INK4A in penile squamous cell carcinoma (2026) Fiegl A, Angeloni M, Mink J, Pryalukhin A, Khalmurzaev O, Lohse S, Lobo J, et al. Journal article