Maartje Van De Vorst

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 29 publications

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Journal: Andrology

Published: April 12, 2024

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Journal: Nature communications

Published: December 08, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Journal: Frontiers in cell and developmental biology

Published: November 30, 2022

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Journal: Human mutation

Published: April 05, 2022

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.

Journal: Metabolites

Published: July 15, 2021

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

Journal: Genome medicine

Published: December 04, 2020

Mutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia.

Mutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia.

Journal: Blood cancer discovery

Published: August 15, 2020

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Journal: Genes

Published: October 22, 2019

Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout.

Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout.

Journal: Annals of the rheumatic diseases

Published: August 29, 2019

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: August 28, 2019

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Journal: Human mutation

Published: February 11, 2019

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Journal: Genome medicine

Published: January 10, 2019

Showing 1-12 of 29

Last Updated: 09/26/2026