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Trends in Cancer|July 26, 2017
Difference Makers: Chromosomal Instability versus Aneuploidy in CancerRichard H van Jaarsveld, Geert J P L Kops
European Journal of Medical Genetics|December 5, 2020
Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiencyMyrthe Naber, Debby Hellebrekers, Rutger A J Nievelstein, et al.
Methods in Cell Biology|June 30, 2018
Live imaging of cell division in 3D stem-cell organoid culturesAna C F Bolhaqueiro, Richard H van Jaarsveld, Bas Ponsioen, et al.
European Journal of Medical Genetics|May 26, 2024
Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odysseyJasper J van der Smagt, Angeliki P Lampri, Iris de Lange, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2022
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genesEleanor G Seaby, Damian Smedley, Ana Lisa Taylor Tavares, et al.
Human Molecular Genetics|April 28, 2020
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delayYan Huang, Xiao Mao, Richard H van Jaarsveld, et al.
Nature Communications|July 26, 2023
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin developmentAnthony J Asmar, Shaun R Abrams, Jenny Hsin, et al.
Journal of Medical Genetics|September 16, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndromeShiomi Otsuji, Yosuke Nishio, Maki Tsujita, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 11, 2020
Genetics-first approach improves diagnostics of ESKD patients <50 years oldRozemarijn Snoek, Richard H van Jaarsveld, Tri Q Nguyen, et al.
Nature Communications|November 25, 2025
A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndromeLouise Fairall, Kristupas Sirvydis, Robert E Turnbull, et al.
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