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Article

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Prenatal diagnosis - 1 Nov 2015

Alamillo Christina L, Powis Zöe, Farwell Kelly, Shahmirzadi Layla, Weltmer Elaine C, Turocy John, Lowe Thomas, Kobelka Christine, Chen Emily, Basel Donald, Ashkinadze Elena, D'Augelli Lisa, Chao Elizabeth, Tang Sha

Abstract excerpt

OBJECTIVE: Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however little has been reported regarding its utility in a prenatal setting. The goal of this study is to describe the results from a cohort of fetuses for which exome sequencing was performed. METHODS: We performed a retrospective analysis of the first seven cases referred to our...

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Source

Identifiers

PMID: 26147564
DOI: 10.1002/pd.4648

Genes

GBE1
RAPSN

Provenance

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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