Richard H. Van Jaarsveld

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 40 publications

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

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

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

Journal: Nature communications

Published: May 21, 2025

A novel spliceosomopathy caused by de novo SF3B3 variants.

A novel spliceosomopathy caused by de novo SF3B3 variants.

Journal: Genome medicine

Published: April 26, 2025

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Journal: Human molecular genetics

Published: April 08, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 13, 2025

Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.

Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.

Journal: American journal of medical genetics. Part A

Published: July 13, 2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Journal: American journal of human genetics

Published: March 25, 2024

Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey.

Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey.

Journal: European journal of medical genetics

Published: February 15, 2024

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Journal: American journal of human genetics

Published: November 09, 2023

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Journal: Cell death & disease

Published: July 14, 2023

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Journal: Science translational medicine

Published: May 31, 2023

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

Showing 1-12 of 40

Last Updated: 09/26/2026