Catharina L. Touw-Volker

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 13 publications

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics

Published: April 01, 2024

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

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

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

Published: January 24, 2022

Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant.

Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant.

Journal: The Canadian journal of cardiology

Published: November 24, 2020

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

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

Published: September 06, 2020

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Journal: American journal of medical genetics. Part A

Published: September 30, 2019

Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.

Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.

Journal: Molecular genetics and metabolism

Published: April 25, 2019

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Journal: Annals of neurology

Published: April 26, 2018

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Journal: Clinical dysmorphology

Published: March 30, 2018

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.

Journal: BMC biology

Published: July 15, 2016

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.

Journal: The British journal of dermatology

Published: May 21, 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Journal: Nature genetics

Published: April 04, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026