Marleen H. Simon

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 48 publications

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Journal: Scientific reports

Published: July 03, 2024

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: February 03, 2024

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Journal: American journal of human genetics

Published: November 09, 2023

Burn injuries and acute burn management in the rural areas in northern Bangladesh - A household survey.

Burn injuries and acute burn management in the rural areas in northern Bangladesh - A household survey.

Journal: Burns : journal of the International Society for Burn Injuries

Published: October 20, 2023

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Journal: American journal of human genetics

Published: August 23, 2023

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Journal: Clinical genetics

Published: January 23, 2023

Nosology of genetic skeletal disorders: 2023 revision.

Nosology of genetic skeletal disorders: 2023 revision.

Journal: American journal of medical genetics. Part A

Published: December 22, 2022

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.

Journal: Nature communications

Published: October 29, 2022

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.

Journal: Journal of medical genetics

Published: April 20, 2022

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

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

Published: January 24, 2022

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Journal: NPJ genomic medicine

Published: November 25, 2021

Showing 1-12 of 48

Last Updated: 09/26/2026