Niels Vos

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 16 publications

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

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

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

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

Journal: Genome medicine

Published: May 09, 2025

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics

Published: December 14, 2023

The utility of obesity polygenic risk scores from research to clinical practice: A review.

The utility of obesity polygenic risk scores from research to clinical practice: A review.

Journal: Obesity reviews : an official journal of the International Association for the Study of Obesity

Published: October 01, 2023

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

Journal: Clinical obesity

Published: August 09, 2023

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.

Journal: European journal of human genetics : EJHG

Published: August 03, 2023

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.

Journal: Epigenomics

Published: May 30, 2023

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Journal: European journal of human genetics : EJHG

Published: March 16, 2023

Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.

Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.

Journal: American journal of medical genetics. Part A

Published: January 24, 2023

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

Showing 1-12 of 16

Last Updated: 09/26/2026