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. |
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| 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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