Ronald H. Van Beek
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 21 publications
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.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 27, 2026
Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.
Journal: NPJ genomic medicine
Published: March 25, 2026
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.
Journal: Annals of neurology
Published: August 25, 2025
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
Missense variants in TUBA4A cause myo-tubulinopathies.
Journal: Brain : a journal of neurology
Published: June 26, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 29, 2024
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
Last Updated: 09/26/2026