Marjon A. Van Slegtenhorst

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 141 publications

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Journal: Clinical genetics

Published: May 12, 2026

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 29, 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics

Published: February 06, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences

Published: December 19, 2025

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

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

Published: December 11, 2025

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes.

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes.

Journal: iScience

Published: September 29, 2025

Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses.

Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses.

Journal: Genetics in medicine open

Published: July 29, 2025

Expansion of the phenotype in ZFX neurodevelopmental disorder in a family.

Expansion of the phenotype in ZFX neurodevelopmental disorder in a family.

Journal: European journal of medical genetics

Published: April 29, 2025

Ventricular fibrillation in patients with pathogenic filamin C variants: Even a possibility with normal left ventricular ejection fraction and absent late gadolinium enhancement.

Ventricular fibrillation in patients with pathogenic filamin C variants: Even a possibility with normal left ventricular ejection fraction and absent late gadolinium enhancement.

Journal: HeartRhythm case reports

Published: April 04, 2025

Accelerometry-defined physical activity and quality of life in hypertrophic cardiomyopathy.

Accelerometry-defined physical activity and quality of life in hypertrophic cardiomyopathy.

Journal: Heart (British Cardiac Society)

Published: April 04, 2025

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Journal: European journal of human genetics : EJHG

Published: March 24, 2025

Genotype-negative hypertrophic cardiomyopathy: Exploring the role of cardiovascular risk factors in disease expression.

Genotype-negative hypertrophic cardiomyopathy: Exploring the role of cardiovascular risk factors in disease expression.

Journal: International journal of cardiology

Published: March 18, 2025

Showing 1-12 of 141

Last Updated: 09/26/2026