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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

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Title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Authors: Martin HC; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Kim GE; Departments of Cellular and Molecular Physiology and Pharmacology, Yale University School of Medicine, New Haven, CT, USA., Pagnamenta AT; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, NIHR Biomedical Research Centre, Oxford, UK., Murakami Y; Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan., Carvill GL; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Meyer E; Neurosciences Unit, UCL-Institute of Child Health, London, UK, Department of Neurology, Great Ormond Street Hospital, London, UK., Copley RR; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, NIHR Biomedical Research Centre, Oxford, UK., Rimmer A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Barcia G; Department of Paediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Paris, France., Fleming MR; Departments of Cellular and Molecular Physiology and Pharmacology, Yale University School of Medicine, New Haven, CT, USA., Kronengold J; Departments of Cellular and Molecular Physiology and Pharmacology, Yale University School of Medicine, New Haven, CT, USA., Brown MR; Departments of Cellular and Molecular Physiology and Pharmacology, Yale University School of Medicine, New Haven, CT, USA., Hudspith KA; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, NIHR Biomedical Research Centre, Oxford, UK., Broxholme J; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Kanapin A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Cazier JB; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Kinoshita T; Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan., Nabbout R; Department of Paediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Paris, France., Bentley D; Illumina Inc., San Diego, CA, USA., McVean G; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Heavin S; Departments of Medicine and Paediatrics, Florey Institute, The University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, VIC, Australia., Zaiwalla Z; Department of Clinical Neurophysiology, John Radcliffe Hospital, Oxford, UK., McShane T; Department of Paediatrics, Children's Hospital Oxford, John Radcliffe Hospital, Oxford, UK., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Shears D; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK., Stewart H; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK., Kurian MA; Neurosciences Unit, UCL-Institute of Child Health, London, UK., Scheffer IE; Departments of Medicine and Paediatrics, Florey Institute, The University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, VIC, Australia., Blair E; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK., Donnelly P; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Kaczmarek LK; Departments of Cellular and Molecular Physiology and Pharmacology, Yale University School of Medicine, New Haven, CT, USA., Taylor JC; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, NIHR Biomedical Research Centre, Oxford, UK, jenny@well.ox.ac.uk.
Corporate Authors: WGS500 Consortium
Source: Human molecular genetics [Hum Mol Genet] 2014 Jun 15; Vol. 23 (12), pp. 3200-11. Date of Electronic Publication: 2014 Jan 25.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
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  Data: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
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  Data: <searchLink fieldCode="AU" term="%22Martin+HC%22">Martin HC</searchLink>; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Kim+GE%22">Kim GE</searchLink>; Departments of Cellular and Molecular Physiology and Pharmacology, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, NIHR Biomedical Research Centre, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Murakami+Y%22">Murakami Y</searchLink>; Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Carvill+GL%22">Carvill GL</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Meyer+E%22">Meyer E</searchLink>; 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Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Kaczmarek+LK%22">Kaczmarek LK</searchLink>; Departments of Cellular and Molecular Physiology and Pharmacology, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Taylor+JC%22">Taylor JC</searchLink>; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, NIHR Biomedical Research Centre, Oxford, UK, jenny@well.ox.ac.uk.
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