Mieke M. Van Haelst

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 161 publications

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

Journal: medRxiv : the preprint server for health sciences

Published: May 07, 2026

Clinical and Molecular Characterization of 46 Patients With Beckwith-Wiedemann Spectrum and Uniparental Disomy of 11p15.

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

Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.

Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.

Journal: European journal of human genetics : EJHG

Published: March 31, 2026

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Journal: Human genetics

Published: February 10, 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

Socioeconomic position, genetic susceptibility, and epigenetic profiles in obesity across the life course: a systematic review.

Socioeconomic position, genetic susceptibility, and epigenetic profiles in obesity across the life course: a systematic review.

Journal: International journal of obesity (2005)

Published: January 12, 2026

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.

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

Melanocortin 3 Receptors Do Not Specifically Localize to Primary Cilia in Cultured Human and Rodent Neurons.

Melanocortin 3 Receptors Do Not Specifically Localize to Primary Cilia in Cultured Human and Rodent Neurons.

Journal: Cell biochemistry and function

Published: November 14, 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

Generation of two human induced pluripotent stem cell lines (iPSC) from patients with Hao-Fountain Syndrome.

Generation of two human induced pluripotent stem cell lines (iPSC) from patients with Hao-Fountain Syndrome.

Journal: Stem cell research

Published: September 15, 2025

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

Journal: American journal of medical genetics. Part A

Published: September 09, 2025

Generation of a human induced pluripotent stem cell line (iPSC) from a patient with Clark-Baraitser Syndrome.

Generation of a human induced pluripotent stem cell line (iPSC) from a patient with Clark-Baraitser Syndrome.

Journal: Stem cell research

Published: September 03, 2025

Showing 1-12 of 161

Last Updated: 09/26/2026