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Article

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2018

Powis Zöe, Farwell Hagman Kelly D, Speare Virginia, Cain Taylor, Blanco Kirsten, Mowlavi Layla S, Mayerhofer Emily M, Tilstra David, Vedder Timothy, Hunter Jesse M, Tsang Marilyn, Gonzalez Lina, Vockley Gerald, Tang Sha

Abstract excerpt

PURPOSE: Neonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES. METHODS: The clinical histories and results of 66 neonatal patients undergoing DES were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29565416
DOI: 10.1038/gim.2018.11

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DES

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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