Talia J. Allan
Parkville, VIC, Australia
Last Updated: 09/26/2026
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Found 8 publications
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: May 07, 2026
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.
Journal: Nature genetics
Published: September 02, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.
Journal: Annals of neurology
Published: May 21, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
Journal: Epilepsia
Published: December 17, 2024
Early mortality in STXBP1-related disorders.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: June 20, 2024
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
Journal: medRxiv : the preprint server for health sciences
Published: October 24, 2023
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
Journal: Nature communications
Published: October 20, 2023
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Last Updated: 09/26/2026