Bregje W. Van Bon

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 35 publications

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.

Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.

Journal: Neurogenetics

Published: January 30, 2025

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Journal: Genetics in medicine open

Published: November 30, 2023

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Journal: HGG advances

Published: November 13, 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

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Journal: Nature communications

Published: January 25, 2023

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Journal: Journal of medical genetics

Published: November 14, 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

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: August 31, 2022

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.

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

Published: May 04, 2022

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Journal: Human mutation

Published: November 07, 2021

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Journal: American journal of human genetics

Published: November 05, 2021

Showing 1-12 of 35

Last Updated: 09/26/2026