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

Saved in:
Bibliographic Details
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
Description
ISSN:1530-0366
DOI:10.1038/s41436-018-0044-2