Brigid M. Regan
The University of Melbourne(AU)Austin Health(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, RNA and protein synthesis mechanisms
Most-Cited Works
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → GRIN2A mutations cause epilepsy-aphasia spectrum disorders(2013)372 cited
- → Mutations in DEPDC5 cause familial focal epilepsy with variable foci(2013)359 cited
- → Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals(2019)299 cited
- → Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy(2015)276 cited
- → Ultra-rare genetic variation in common epilepsies: a case-control sequencing study(2017)234 cited
- → Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations(2014)219 cited
- → Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2(2019)164 cited
- → Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies(2018)121 cited
- → Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy(2017)111 cited