High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Top Cited Papers
Open Access
- 1 November 2017
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 101 (5), 664-685
- https://doi.org/10.1016/j.ajhg.2017.09.008
Abstract
No abstract availableKeywords
Funding Information
- Genome Canada
- Génome Québec
- Jeanne and Jean-Louis Lévesque Foundation
- Michael Bahen Chair in Epilepsy Research
- The Ontario Brain Institute
- the McLaughlin Foundation
- the University of Toronto
- the National Institute of Neurological Disorders and Stroke (RO1 NS069605)
- University of Toronto McLaughlin Accelerator Grant in Genomic Medicine (MC-2013-08))
This publication has 78 references indexed in Scilit:
- Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2Genetics in Medicine, 2017
- Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndromeHuman Genetics, 2015
- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of GlycosylationCell Metabolism, 2014
- Genome sequencing identifies major causes of severe intellectual disabilityNature, 2014
- De novo mutations in epileptic encephalopathiesNature, 2013
- Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variationGenome Research, 2013
- Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis PigmentosaAmerican Journal of Human Genetics, 2011
- Postsynaptic BDNF‐TrkB signaling in synapse maturation, plasticity, and diseaseDevelopmental Neurobiology, 2010
- Characterization of Dehydrodolichyl diphosphate synthase gene in rainbow trout (Oncorhynchus mykiss)Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology, 2009
- Structural Basis for Rab11-mediated Recruitment of FIP3 to Recycling EndosomesJournal of Molecular Biology, 2006