Nienke E. Verbeek

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 61 publications

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

Journal: Annals of neurology

Published: May 11, 2025

Analysis of the mixed secondary radiation field in proton therapy using a Timepix detector.

Analysis of the mixed secondary radiation field in proton therapy using a Timepix detector.

Journal: Physics in medicine and biology

Published: April 01, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Journal: HGG advances

Published: February 27, 2025

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

Journal: Annals of neurology

Published: April 18, 2024

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 02, 2024

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics

Published: December 14, 2023

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Journal: American journal of human genetics

Published: November 17, 2023

Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families.

Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 07, 2023

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

Journal: Epilepsia open

Published: February 22, 2023

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.

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

Published: January 19, 2023

The different clinical facets of SYN1-related neurodevelopmental disorders.

The different clinical facets of SYN1-related neurodevelopmental disorders.

Journal: Frontiers in cell and developmental biology

Published: August 15, 2022

Showing 1-12 of 61

Last Updated: 09/26/2026