Kyra E. Stuurman

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 40 publications

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Journal: Clinical genetics

Published: May 12, 2026

Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study.

Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study.

Journal: Prenatal diagnosis

Published: May 28, 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

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 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

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis.

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis.

Journal: Journal of inherited metabolic disease

Published: February 17, 2025

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 13, 2025

A clinical and genotype-phenotype analysis of MACF1 variants.

A clinical and genotype-phenotype analysis of MACF1 variants.

Journal: American journal of human genetics

Published: January 10, 2025

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Journal: European journal of human genetics : EJHG

Published: October 05, 2024

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Journal: Nature

Published: August 20, 2024

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.

Journal: Prenatal diagnosis

Published: July 10, 2024

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics

Published: December 14, 2023

Showing 1-12 of 40

Last Updated: 09/26/2026