Marie-jose H. Van Den Boogaard

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 51 publications

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

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

Published: September 15, 2025

Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

Journal: JPRAS open

Published: August 27, 2025

Genetic Landscape of Robin Sequence: A Systematic Review.

Genetic Landscape of Robin Sequence: A Systematic Review.

Journal: Clinical genetics

Published: July 30, 2025

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Journal: Human molecular genetics

Published: June 10, 2025

Timeline of Amelogenesis Imperfecta Management.

Timeline of Amelogenesis Imperfecta Management.

Journal: The Journal of craniofacial surgery

Published: February 26, 2025

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Journal: Genes

Published: June 16, 2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Journal: American journal of human genetics

Published: March 25, 2024

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

Genetic outcomes in children with developmental language disorder: a systematic review.

Genetic outcomes in children with developmental language disorder: a systematic review.

Journal: Frontiers in pediatrics

Published: October 10, 2023

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.

Journal: Genes

Published: June 29, 2023

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Journal: Science translational medicine

Published: May 31, 2023

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Journal: Human molecular genetics

Published: March 30, 2023

Showing 1-12 of 51

Last Updated: 09/26/2026