Margot F. Reijnders

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 33 publications

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

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.

Journal: American journal of human genetics

Published: May 30, 2023

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.

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

Published: November 17, 2022

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

Journal: Neurology. Genetics

Published: November 03, 2020

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

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

Published: August 21, 2020

Germline AGO2 mutations impair RNA interference and human neurological development.

Germline AGO2 mutations impair RNA interference and human neurological development.

Journal: Nature communications

Published: December 28, 2019

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

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

Published: November 13, 2019

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Journal: Nature

Published: October 08, 2019

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Journal: Molecular psychiatry

Published: May 03, 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Journal: Biological psychiatry

Published: March 27, 2019

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

Journal: American journal of human genetics

Published: December 19, 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Journal: American journal of human genetics

Published: October 06, 2018

Showing 1-12 of 33

Last Updated: 09/26/2026