Emilia K. Bijlsma

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 93 publications

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Journal: European journal of human genetics : EJHG

Published: February 21, 2026

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.

Journal: Journal of medical genetics

Published: January 20, 2026

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes.

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes.

Journal: iScience

Published: September 29, 2025

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Journal: Journal of medical genetics

Published: July 02, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

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

Published: June 23, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

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

Published: June 23, 2025

Evaluation of a web-based decision aid for couples at risk of transmitting a genetic disease: a randomized controlled trial.

Evaluation of a web-based decision aid for couples at risk of transmitting a genetic disease: a randomized controlled trial.

Journal: Reproductive biomedicine online

Published: May 26, 2025

Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.

Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.

Journal: Human genetics

Published: September 02, 2024

Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study.

Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study.

Journal: Journal of Huntington's disease

Published: August 09, 2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

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

Published: July 05, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Showing 1-12 of 93

Last Updated: 09/26/2026