Brigid M. Regan

The University of Sydney — Australia

Biochemistry, Genetics and Molecular Biology · Life Sciences

28h-index3.9kcitations40works27.72yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(33), Genomics and Rare Diseases(26), Epilepsy research and treatment(19), Genomic variations and chromosomal abnormalities(10), RNA and protein synthesis mechanisms(4)

Publications37 total

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep <scp>(D/EE‐SWAS</scp>)
Annals of Neurology·2024· 15 citedOpen Access
Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies
Epilepsia·2024· 29 citedOpen Access
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Nature Communications·2023· 53 citedOpen Access
The diverse pleiotropic effects of spliceosomal protein <scp>PUF60</scp>: A case series of Verheij syndrome
American Journal of Medical Genetics Part A·2022· 17 cited
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies
Neurology·2022· 70 citedOpen Access
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
The American Journal of Human Genetics·2021· 4 citedOpen Access
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
EBioMedicine·2021· 15 citedOpen Access
Integrated in silico and experimental assessment of disease relevance of <i>PCDH19</i>  missense variants
Human Mutation·2021· 1 citedOpen Access
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
The American Journal of Human Genetics·2021· 58 citedOpen Access
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
Neurology·2021· 20 citedOpen Access
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Brain·2020· 77 citedOpen Access
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
European Journal of Human Genetics·2020· 32 citedOpen Access
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Nature Communications·2019· 154 citedOpen Access
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Nature Communications·2019· 59 citedOpen Access
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
The American Journal of Human Genetics·2019· 298 citedOpen Access
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Human Mutation·2019· 62 citedOpen Access
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
2019· 21 citedOpen Access
Repeat expansion disorders enriched in an Australian and New Zealand Epi25 Year 1 epilepsy cohort
Murdoch Research Repository (Murdoch University)·2019
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
The American Journal of Human Genetics·2018· 120 citedOpen Access
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
The American Journal of Human Genetics·2017· 446 citedOpen Access
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Frequent Co-authors

Ingrid E. Scheffer(34), Samuel F. Berkovic(25), Sarah Weckhuysen(17), Dennis Lal(12), Renzo Guerrini(12), Patrick Cossette(11), Karl Martin Klein(11), Terence J. O’Brien(11), Ingo Helbig(11), Slavé Petrovski(11), Michael S. Hildebrand(10), Erin L. Heinzen(10), Peter De Jonghe(10), Danielle M. Andrade(10), Hiltrud Muhle(10), Amy Schneider(9), Lynette G. Sadleir(9), Susannah T. Bellows(9), Patrick May(9), Patrick Kwan(9)