Publications by authors named "Beth Rosen Sheidley"

15Publications

Mutations in and in a patient with early-onset epileptic encephalopathy and respiratory depression.

Cold Spring Harb Mol Case Stud 2019 02 1;5(1). Epub 2019 Feb 1.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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February 2019

Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.

Neurology 2019 Jan 4. Epub 2019 Jan 4.

From the Epilepsy Genetics Program (B.R.S., A.P.), Division of Epilepsy and Clinical Neurophysiology (I.S.F., T.L., M.G.-L., B.R.S., A.P.), Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Child Neurology (I.S.F.), Hospital Sant Joan de Déu, Universidad de Barcelona, Spain; and Facultad de Medicina (M.G.-L.), Universidad Austral de Chile, Valdivia.

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January 2019

Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.

JAMA Pediatr 2018 08;172(8):779-780

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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August 2018

PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

Epilepsia 2018 03 28;59(3):679-689. Epub 2018 Jan 28.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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March 2018

Compound heterozygosity with : Pushing the phenotypic envelope in genetic epilepsies.

Epilepsy Behav Case Rep 2019 1;11:125-128. Epub 2017 Feb 1.

Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, and Harvard Medical School, Boston, MA 02115, United States.

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February 2017

A Model Program for Translational Medicine in Epilepsy Genetics.

J Child Neurol 2017 03 6;32(4):429-436. Epub 2017 Jan 6.

1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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March 2017

Genetic testing in the epilepsies-developments and dilemmas.

Nat Rev Neurol 2014 May 15;10(5):293-9. Epub 2014 Apr 15.

Gertrude H. Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, and Department of Epidemiology, Mailman School of Public Health, Columbia University, 630 West 168th Street, New York, NY 10032, USA.

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May 2014

Psychiatric disorders in clinical genetics II: Individualizing recurrence risks.

J Genet Couns 2008 Feb 11;17(1):18-29. Epub 2007 Dec 11.

Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada,

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February 2008