Richard H van Jaarsveld

7PUBLICATIONS
52CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsMolecular targetsZoology not elsewhere classifiedNeurology and neuromuscular diseasesMechanobiology
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Publications (7)

|Nov 25, 2025
A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome.

Louise Fairall, Kristupas Sirvydis, Robert E Turnbull

|Jul 26, 2023
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.

Anthony J Asmar, Shaun R Abrams, Jenny Hsin

|Sep 16, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.

Shiomi Otsuji, Yosuke Nishio, Maki Tsujita

|Jul 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Beau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt

|Nov 25, 2021
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Michael A Levy, David B Beck, Kay Metcalfe

|Nov 09, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Michael A Levy, David B Beck, Kay Metcalfe

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Frequent Collaborators

3 joint publications

Renske Oegema

3 joint publications

David B Beck

2 joint publications

Vinodh Narayanan

2 joint publications

Roger E Stevenson