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Article

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.

Prenatal diagnosis - 1 Jan 2020

Aggarwal Shagun, Vineeth Venugopal Satidevi, Das Bhowmik Aneek, Tandon Ashwani, Kulkarni Aditya, Narayanan Dhanya Lakshmi, Bhattacherjee Amrita, Dalal Ashwin

Abstract excerpt

OBJECTIVE: To ascertain the performance of exome sequencing (ES) technology for determining the etiological basis of abnormal perinatal phenotypes and to study the impact of comprehensive phenotyping on variant prioritization. METHODS: A carefully selected cohort of 32/204 fetuses with abnormal perinatal phenotypes following postmortem/postnatal deep phenotyping underwent ES to identify a causative variant for...

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PMID: 31742715
DOI: 10.1002/pd.5616

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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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