Jeroen Van Reeuwijk

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 33 publications

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

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

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Journal: European journal of human genetics : EJHG

Published: April 26, 2024

Genome sequencing as a generic diagnostic strategy for rare disease.

Genome sequencing as a generic diagnostic strategy for rare disease.

Journal: Genome medicine

Published: September 21, 2023

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

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

Published: September 02, 2023

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Journal: Nature medicine

Published: May 26, 2023

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

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

Journal: Nature medicine

Published: May 01, 2023

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

Journal: HGG advances

Published: December 13, 2022

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

Journal: Nature genetics

Published: September 06, 2022

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: June 07, 2022

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

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

Published: January 27, 2022

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.

Journal: Scientific data

Published: October 20, 2021

Showing 1-12 of 33

Last Updated: 09/26/2026