Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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

doi:10.1056/nejmoa1200395

Public

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Published in New England Journal of Medicine • Sep 12, 2012

Authors:

Santhosh Girirajan

Jill A. Rosenfeld

Bradley P. Coe

Abstract

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 co...

Subject

Copy-number variation

Genetics

Copy number analysis

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