Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
Emma Sherrill, David Cheerie, C S Beck, Ella F. Whittle et autres
0 citationsJAMA Neurology
Sarah Mulhern
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7Publications signalées
80Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesEpilepsy research and treatmentMetabolism and Genetic DisordersNeurogenetic and Muscular Disorders ResearchCardiac electrophysiology and arrhythmias
Publications récentes
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
Jimmy Nguyen, Maria Lachgar-Ruiz, Edward J. Higginbotham, Matthew Coleman et autres
1 citationNeurology
O62: Comprehensive reanalysis increases the diagnostic yield of rapid genome sequencing in infantile epilepsy
Jimmy Nguyen, Maria Lachgar-Ruiz, Edward Higginbotham, Matthew Coleman et autres
0 citationsGenetics in Medicine Open
Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative study
Sarah Mulhern, A. Morrish, V. Connell, Chriselle Hickerton et autres
1 citationEuropean Journal of Human Genetics
Assessing Precision Antisense Oligonucleotide Therapy Eligibility for Infantile Genetic Epilepsies
Emma Sherrill, David Cheerie, C S Beck, Ella F. Whittle et autres
0 citationsmedRxiv
P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study
Nicole Si Yan Liang, Gregory Costain, Alissa M. D’Gama, Amy McTague et autres
0 citationsGenetics in Medicine Open
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley, Fadil Boodhoo et autres
78 citationsThe Lancet Neurology
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