Marielle M. Alders

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 128 publications

A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome.

A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome.

Journal: European journal of medical genetics

Published: February 06, 2026

Episignature-based modelled first-tier diagnostic approach in the Dutch Caribbean: advancing equal care through epigenetic classification.

Episignature-based modelled first-tier diagnostic approach in the Dutch Caribbean: advancing equal care through epigenetic classification.

Journal: Frontiers in genetics

Published: February 04, 2026

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Journal: Genome medicine

Published: January 20, 2026

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Journal: Clinical genetics

Published: November 28, 2025

Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature.

Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature.

Journal: Frontiers in genetics

Published: October 22, 2025

Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.

Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.

Journal: European journal of human genetics : EJHG

Published: September 16, 2025

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Journal: European journal of human genetics : EJHG

Published: May 01, 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

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Journal: Human molecular genetics

Published: April 08, 2025

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.

Journal: Clinical epigenetics

Published: April 04, 2025

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.

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

Published: December 07, 2024

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Journal: Clinical epigenetics

Published: October 18, 2024

Showing 1-12 of 128

Last Updated: 09/26/2026