Lynette G. Sadleir

23 Mein Street
Newtown, WGN 6021, New Zealand

Last Updated: 09/26/2026

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Found 94 publications

Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Journal: Molecular genetics and metabolism reports

Published: March 25, 2026

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Journal: Genome medicine

Published: January 20, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Development and Adaptive Function in Individuals With SCN2A-Related Disorders.

Development and Adaptive Function in Individuals With SCN2A-Related Disorders.

Journal: Neurology

Published: July 22, 2025

Appropriate selection of participants in pediatric developmental and epileptic encephalopathy trials: Lessons learned and future opportunities.

Appropriate selection of participants in pediatric developmental and epileptic encephalopathy trials: Lessons learned and future opportunities.

Journal: Epilepsia

Published: March 21, 2025

SUDEP risk is influenced by longevity genomics: a polygenic risk score study.

SUDEP risk is influenced by longevity genomics: a polygenic risk score study.

Journal: EBioMedicine

Published: February 19, 2025

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

Journal: Epilepsia

Published: December 17, 2024

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.

Journal: NAR genomics and bioinformatics

Published: November 20, 2024

Big data research is everyone's research-Making epilepsy data science accessible to the global community: Report of the ILAE big data commission.

Big data research is everyone's research-Making epilepsy data science accessible to the global community: Report of the ILAE big data commission.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: April 23, 2024

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Journal: Annals of neurology

Published: February 23, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: February 14, 2024

Showing 1-12 of 94

Last Updated: 09/26/2026