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Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?

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Title: Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?
Authors: Roman TS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Gray SM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Sneddon TP; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Foreman AKM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Lee K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Powell CM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Weck KE; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Powell BC; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: bpow@unc.edu.
Source: HGG advances [HGG Adv] 2026 Jul 09; Vol. 7 (3), pp. 100605. Date of Electronic Publication: 2026 Apr 03.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Roman+TS%22">Roman TS</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Gray+SM%22">Gray SM</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Sneddon+TP%22">Sneddon TP</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Foreman+AKM%22">Foreman AKM</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Lee+K%22">Lee K</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Powell+CM%22">Powell CM</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Weck+KE%22">Weck KE</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Berg+JS%22">Berg JS</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Powell+BC%22">Powell BC</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: bpow@unc.edu.
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