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Article

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017

Yates Carin L, Monaghan Kristin G, Copenheaver Deborah, Retterer Kyle, Scuffins Julie, Kucera Cathlin R, Friedman Bethany, Richard Gabriele, Juusola Jane

Abstract excerpt

PurposeThe aim of this study was to determine the diagnostic yield of whole-exome sequencing (WES) in fetuses with ultrasound anomalies that resulted in fetal demise or pregnancy termination. The results were also utilized to aid in the identification of candidate genes for fetal development and to expand the clinical phenotype of known genetic conditions.MethodsWES was performed on specimens from 84 deceased...

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Identifiers

PMID: 28425981
DOI: 10.1038/gim.2017.31

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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