Robin Wijngaard

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 29 publications

Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94.

Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94.

Journal: Neuropediatrics
Published: May 08, 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 27, 2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

Journal: European journal of human genetics : EJHG
Published: February 16, 2026

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

Journal: Journal of inherited metabolic disease
Published: February 10, 2026

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Journal: American journal of human genetics
Published: October 13, 2025

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Journal: Annals of neurology
Published: August 25, 2025

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025

Guide for the classification of porphyrias using state-of-the-art reverse-phase high-performance liquid chromatography.

Guide for the classification of porphyrias using state-of-the-art reverse-phase high-performance liquid chromatography.

Journal: Scandinavian journal of clinical and laboratory investigation
Published: July 02, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine
Published: June 19, 2025

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: Nature genetics
Published: September 13, 2024

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.

Journal: Genetics in medicine open
Published: May 22, 2024

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Journal: European journal of human genetics : EJHG
Published: November 17, 2023
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Last Updated: 09/26/2026