Bregje W.M. van Bon

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

54h-index13.0kcitations139works4.12yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(53), Genetics and Neurodevelopmental Disorders(52), Genomics and Rare Diseases(47), Congenital heart defects research(22), Ubiquitin and proteasome pathways(9)

Publications135 total

New Insights into the Relation between Cognition, Behavior, and the CHD5 Gene: A Case-Report of an Adult Male with Parenti-Mignot Neurodevelopmental Syndrome
Molecular Syndromology·2025Open Access
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Journal of Clinical Investigation·2025Open Access
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
Nature Communications·2025· 2 citedOpen Access
Pathogenic Variants in TUBGCP6 of Familial Microcephaly and Chorioretinopathy
Journal of Health Science and Medical Research·2025Open Access
Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals
Neurogenetics·2025Open Access
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
The American Journal of Human Genetics·2024· 16 citedOpen Access
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
Science Advances·2024· 2 citedOpen Access
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
Nature Medicine·2024· 11 citedOpen Access
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
Human Genetics and Genomics Advances·2024· 4 citedOpen Access
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
Genetics in Medicine Open·2024· 6 citedOpen Access
PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders
2023· 1 citedOpen Access
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutations
Journal of Medical Genetics·2023· 5 citedOpen Access
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Nature Genetics·2023· 67 citedOpen Access
Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia
Intractable & Rare Diseases Research·2023· 1 citedOpen Access
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Journal of Clinical Investigation·2023· 39 citedOpen Access
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
Genetics in Medicine·2022· 12 citedOpen Access
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
2022· 5 citedOpen Access
The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Human Mutation·2022· 14 citedOpen Access
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
European Journal of Human Genetics·2022· 21 citedOpen Access
<i>SETBP1</i> variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder
2022· 8 citedOpen Access
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Frequent Co-authors

Bert B.A. de Vries(25), Alexander Hoischen(21), Joris A. Veltman(16), Tjitske Kleefstra(14), Christian Gilissen(14), Han G. Brunner(14), Lisenka E.L.M. Vissers(13), Rolph Pfundt(12), Marjolein H. Willemsen(9), Nicole de Leeuw(9), Corrado Romano(9), Han G. Brunner(9), Helger G. Yntema(8), David A. Koolen(8), Joep de Ligt(7), Marloes Steehouwer(7), Janneke Schuurs-Hoeijmakers(7), Marco Fichera(7), Jozef Gécz(7), Petra de Vries(6)