Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants | Zendy

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

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Author(s) -

Santhosh Girirajan,

Jill A. Rosenfeld,

Bradley P. Coe,

Sumit Parikh,

Neil Friedman,

Amy Goldstein,

Robyn A. Filipink,

Juliann McConnell,

Brad Angle,

Wendy S. Meschino,

Marjan M. Nezarati,

Alexander Asamoah,

Kelly E. Jackson,

Gordon C. Gowans,

Judith A. Martin,

Erin P. Carmany,

David W. Stockton,

Rhonda E. Schnur,

Lynette S. Penney,

Donna M. Martin,

Salmo Raskin,

Kathleen A. Leppig,

Heidi Thiese,

Rosemarie Smith,

Erika Aberg,

Dmitriy M. Niyazov,

Luis Escobar,

Dima ElKhechen,

Kisha Johnson,

Robert Roger Lebel,

Kiana Siefkas,

Susie Ball,

Natasha Shur,

Marianne McGuire,

Campbell K. Brasington,

J. Edward Spence,

Laura Martin,

Carol L. Clericuzio,

Blake C. Ballif,

Lisa G. Shaffer,

Evan E. Eichler

Publication year - 2012

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1200395

Subject(s) - copy number variation , genetics , copy number analysis , phenotype , comparative genomic hybridization , odds ratio , genetic heterogeneity , biology , medicine , genome , gene

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.

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