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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

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Title: A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Authors: Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA. vandana.shashi@duke.edu., Schoch K; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Cope H; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Tan QK; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Walley N; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Pena L; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., McConkie-Rosell A; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Jiang YH; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Stong N; Institute for Genomic Medicine, Columbia University, New York, New York, USA., Need AC; Division of Brain Sciences, Department of Medicine, Imperial College London, London, UK., Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, New York, USA.
Corporate Authors: Undiagnosed Diseases Network
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 161-172. Date of Electronic Publication: 2018 Jun 15.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
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  Data: <searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA. vandana.shashi@duke.edu.<br /><searchLink fieldCode="AU" term="%22Schoch+K%22">Schoch K</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Spillmann+R%22">Spillmann R</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Cope+H%22">Cope H</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Tan+QK%22">Tan QK</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Walley+N%22">Walley N</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Pena+L%22">Pena L</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22McConkie-Rosell+A%22">McConkie-Rosell A</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Jiang+YH%22">Jiang YH</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Stong+N%22">Stong N</searchLink>; Institute for Genomic Medicine, Columbia University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Need+AC%22">Need AC</searchLink>; Division of Brain Sciences, Department of Medicine, Imperial College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Goldstein+DB%22">Goldstein DB</searchLink>; Institute for Genomic Medicine, Columbia University, New York, New York, USA.
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  Data: <searchLink fieldCode="CA" term="%22Undiagnosed+Diseases+Network%22">Undiagnosed Diseases Network</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2019 Jan; Vol. 21 (1), pp. 161-172. <i>Date of Electronic Publication: </i>2018 Jun 15.
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