Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

doi:10.1056/NEJMoa1200395

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Article

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

The New England journal of medicine - 4 Oct 2012

Girirajan Santhosh, Rosenfeld Jill A, Coe Bradley P, Parikh Sumit, Friedman Neil, Goldstein Amy, Filipink Robyn A, McConnell Juliann S, Angle Brad, Meschino Wendy S, Nezarati Marjan M, Asamoah Alexander, Jackson Kelly E, Gowans Gordon C, Martin Judith A, Carmany Erin P, Stockton David W, Schnur Rhonda E, Penney Lynette S, Martin Donna M, Raskin Salmo, Leppig Kathleen, Thiese Heidi, Smith Rosemarie, Aberg Erika, Niyazov Dmitriy M, Escobar Luis F, El-Khechen Dima, Johnson Kisha D, Lebel Robert R, Siefkas Kiana, Ball Susie, Shur Natasha, McGuire Marianne, Brasington Campbell K, Spence J Edward, Martin Laura S, Clericuzio Carol, Ballif Blake C, Shaffer Lisa G, Eichler Evan E

Abstract excerpt

BACKGROUND: Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management. METHODS: We analyzed the genomes of 2312 children known to carry a...

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Identifiers

PMID: 22970919
DOI: 10.1056/NEJMoa1200395
PMCID: PMC3494411

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22970919-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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