Margje Sinnema

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 39 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

Journal: iScience

Published: August 11, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Journal: HGG advances

Published: February 27, 2025

D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

Journal: Molecular genetics and metabolism reports

Published: August 21, 2024

Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects.

Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects.

Journal: Journal of neuroendocrinology

Published: August 19, 2024

The importance of early recognition of Prader-Willi syndrome

The importance of early recognition of Prader-Willi syndrome

Journal: Nederlands tijdschrift voor geneeskunde

Published: May 15, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics

Published: March 18, 2024

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Journal: Brain : a journal of neurology

Published: December 29, 2023

Showing 1-12 of 39

Last Updated: 09/26/2026