Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.

doi:10.1016/j.jpeds.2022.01.033

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Article

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.

The Journal of pediatrics - 1 May 2022

Suzuki Hisato, Nozaki Masatoshi, Yoshihashi Hiroshi, Imagawa Kazuo, Kajikawa Daigo, Yamada Mamiko, Yamaguchi Yu, Morisada Naoya, Eguchi Mayuko, Ohashi Shoko, Ninomiya Shinsuke, Seto Toshiyuki, Tokutomi Tomoharu, Hida Mariko, Toyoshima Katsuaki, Kondo Masatoshi, Inui Ayano, Kurosawa Kenji, Kosaki Rika, Ito Yushi, Okamoto Nobuhiko, Kosaki Kenjiro, Takenouchi Toshiki

Abstract excerpt

OBJECTIVE: To delineate the diagnostic efficacy of medical exome, whole exome, and whole genome sequencing according to primary symptoms, the contribution of small copy number variations, and the impact of molecular diagnosis on clinical management. STUDY DESIGN: This was a prospective study of 17 tertiary care centers in Japan, conducted between April 2019 and March 2021. Critically ill neonates and infants less...

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PMID: 35131284
DOI: 10.1016/j.jpeds.2022.01.033

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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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