Ron A. Wevers

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 188 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

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

Journal: Molecular genetics and metabolism
Published: November 25, 2025

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

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

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.

Journal: Journal of inherited metabolic disease
Published: April 18, 2025

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.

Journal: Brain communications
Published: January 21, 2025

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.

Journal: Journal of inherited metabolic disease
Published: January 03, 2025

A Dutch translational knowledge agenda for inherited metabolic diseases.

A Dutch translational knowledge agenda for inherited metabolic diseases.

Journal: Journal of inherited metabolic disease
Published: November 01, 2024

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Journal: International journal of neonatal screening
Published: October 14, 2024

Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

Journal: JIMD reports
Published: September 26, 2024

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

Journal: Metabolites
Published: July 18, 2024

A rare homozygous INS variant causes adult-onset diabetes.

A rare homozygous INS variant causes adult-onset diabetes.

Journal: BMJ open diabetes research & care
Published: June 22, 2024
Showing 1-12 of 188

Last Updated: 09/26/2026