Marcel M. Mannens
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 101 publications
Clinical and Molecular Characterization of 46 Patients With Beckwith-Wiedemann Spectrum and Uniparental Disomy of 11p15.
Journal: American journal of medical genetics. Part A
Published: May 01, 2026
Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.
Journal: American journal of human genetics
Published: April 20, 2026
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
Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.
Journal: Frontiers in cell and developmental biology
Published: January 07, 2026
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Journal: European journal of human genetics : EJHG
Published: May 01, 2025
ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.
Journal: Clinical epigenetics
Published: April 04, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Journal: Molecular neurodegeneration
Published: February 20, 2025
An exploratory single-cell analysis of peripheral blood mononuclear cells from vedolizumab-treated Crohn's disease patients identifies response-associated differences among the plasmacytoid dendritic cells and classical monocytes.
Journal: Frontiers in immunology
Published: December 24, 2024
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.
Journal: Clinical epigenetics
Published: October 18, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
Journal: HGG advances
Published: September 05, 2024
Last Updated: 09/26/2026