M
Mary O'Regan
Researcher at Boston Children's Hospital
Publications - 35
Citations - 1494
Mary O'Regan is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & Medicine. The author has an hindex of 15, co-authored 31 publications receiving 1196 citations. Previous affiliations of Mary O'Regan include NHS Greater Glasgow and Clyde & Royal Hospital for Sick Children.
Papers
More filters
Journal ArticleDOI
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Joseph D. Symonds,Sameer M. Zuberi,Kirsty Stewart,Ailsa McLellan,Mary O'Regan,S. MacLeod,Alice Jollands,Shelagh Joss,Martin Kirkpatrick,Andreas Brunklaus,Daniela T. Pilz,Jay Shetty,Liam Dorris,Ishaq Abu-Arafeh,Jamie Andrew,Philip Brink,Mary Callaghan,Jamie Cruden,Louise A Diver,Christine Findlay,Sarah L. Gardiner,Rosemary Grattan,Bethan Lang,Jane MacDonnell,Jean McKnight,Calum A. Morrison,Lesley Nairn,Meghan M Slean,Elma Stephen,Alan Webb,Angela Vincent,Margaret Wilson +31 more
TL;DR: In a prospective population-based cohort study, Symonds et al. perform high-throughput genetic testing in children presenting with seizures before 3 years of age, and provide incidence estimates for the most common single-gene epilepsies.
Journal ArticleDOI
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Andrea H. Németh,Andrea H. Németh,Andrea H. Németh,Alexandra Kwasniewska,Alexandra Kwasniewska,Stefano Lise,Ricardo P Schnekenberg,Ricardo P Schnekenberg,Esther B. E. Becker,Katarzyna Bera,Morag Shanks,Lorna Gregory,David Buck,M. Zameel Cader,Kevin Talbot,Rajith de Silva,Nicholas A. Fletcher,Rob Hastings,Sandeep Jayawant,Patrick J. Morrison,PF Worth,Malcolm Taylor,John Tolmie,Mary O'Regan,Ruth Valentine,Emily Packham,Julie Evans,A Seller,Jiannis Ragoussis +28 more
TL;DR: Genetic testing using targeted capture followed by next-generation sequencing was efficient, cost-effective, and enabled a molecular diagnosis in many refractory cases and has broad implications for clinical neurology practice and the approach to diagnostic testing.
Journal Article
Nonconvulsive status epilepticus: Epilepsy Research Foundation Workshop Reports
Matthew C. Walker,Helen Cross,Shelagh Smith,Camilla Young,Jean Aicardi,Richard Appleton,Sarah E. Aylett,Frank M. C. Besag,Hannah R. Cock,Robert J. DeLorenzo,Franck Drislane,John S. Duncan,Colin D. Ferrie,Denson Fujikawa,William P. Gray,Peter W. Kaplan,Micheal Koutroumanidis,Mary O'Regan,Perrine Plouin,Josemir W. Sander,Rod C. Scott,Simon Shorvon,David M. Treiman,Claude G. Wasterlain,U. C. Wieshmann +24 more
TL;DR: In April 2004, a group of physicians with an interest in nonconvulsive status epilepticus representing a spectrum of opinion met in Oxford, sponsored by the Epilepsy Research Foundation, to discuss and debate the definition, diagnosis and treatment of the condition.
Journal ArticleDOI
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Nadia Akawi,Jeremy F. McRae,Morad Ansari,Meena Balasubramanian,Moira Blyth,Angela F. Brady,Stephen Clayton,Trevor Cole,Charu Deshpande,Tomas W Fitzgerald,Nicola Foulds,Richard Francis,George C. Gabriel,Sebastian S. Gerety,Judith A. Goodship,Emma Hobson,Wendy D Jones,Shelagh Joss,Daniel A. King,Nikolai Klena,Ajith Kumar,Melissa Lees,Lelliott C,Jenny Lord,Dominic J. McMullan,Mary O'Regan,Deborah Osio,Virginia Piombo,Elena Prigmore,Diana Rajan,Elisabeth Rosser,Alejandro Sifrim,Audrey Smith,Ganesh J. Swaminathan,Peter D. Turnpenny,James Whitworth,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Cecilia W. Lo,David R. FitzPatrick,Matthew E. Hurles +41 more
TL;DR: Four new autosomal recessive disorders are identified by integrating Mendelian filtering with statistical assessments of the likelihood of sampling the observed genotypes from the general population and the phenotypic similarity of patients with recessive variants in the same candidate gene.
Journal ArticleDOI
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo P Schnekenberg,Ricardo P Schnekenberg,Emma M. Perkins,J Miller,Wayne I. L. Davies,Wayne I. L. Davies,Wayne I. L. Davies,Maria Cristina D'Adamo,Mauro Pessia,Mauro Pessia,Katherine A. Fawcett,David Sims,Elodie Gillard,Karl A. Z. Hudspith,Paul Skehel,Jonathan H. Williams,Mary O'Regan,Sandeep Jayawant,Rosalind J. Jefferson,Sarah Hughes,Andrea Lustenberger,Jiannis Ragoussis,Mandy Jackson,Stephen J. Tucker,Andrea H. Németh,Andrea H. Németh +25 more
TL;DR: Four individuals with ataxic cerebral palsy likely due to de novo dominant mutations associated with increased paternal age are described and investigated for genetic causes before the disorder is ascribed to asphyxia.