Stella A. De Man

Stella A. De Man

Breda, NB, Netherlands

Last Updated: 09/26/2026

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Found 19 publications

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Journal: American journal of human genetics

Published: July 22, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

Journal: Translational psychiatry

Published: August 29, 2022

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.

Journal: Journal of neurophysiology

Published: May 18, 2022

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Journal: Human mutation

Published: October 26, 2021

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.

Journal: Child neurology open

Published: May 09, 2021

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Journal: Human genetics

Published: January 29, 2021

Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.

Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.

Journal: Blood advances

Published: November 04, 2020

DLG4-related synaptopathy: a new rare brain disorder.

DLG4-related synaptopathy: a new rare brain disorder.

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

Published: October 16, 2020

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Journal: American journal of human genetics

Published: April 17, 2020

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course.

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course.

Journal: JIMD reports

Published: October 25, 2019

Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Journal: Journal of human genetics

Published: September 21, 2017

Showing 1-12 of 19

Last Updated: 09/26/2026