Clare L. Van Eyk

Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 34 publications

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

Journal: EBioMedicine

Published: November 24, 2025

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Journal: EBioMedicine

Published: June 17, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics

Published: November 18, 2024

Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors.

Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors.

Journal: Seminars in fetal & neonatal medicine

Published: November 10, 2024

RNA variant assessment using transactivation and transdifferentiation.

RNA variant assessment using transactivation and transdifferentiation.

Journal: American journal of human genetics

Published: March 08, 2024

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.

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

Published: November 21, 2023

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Journal: Human genetics

Published: November 08, 2023

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.

Journal: Molecular psychiatry

Published: July 06, 2023

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.

Journal: Translational psychiatry

Published: July 03, 2023

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.

Journal: Nature reviews. Neurology

Published: June 28, 2023

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Journal: Genes

Published: June 20, 2023

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Journal: Nature communications

Published: June 16, 2023

Showing 1-12 of 34

Last Updated: 09/26/2026