Novel copy-number variants in a population-based investigation of classic heterotaxy | Zendy

Shan L. Rigler | Zendy; Denise M. Kay | Zendy; Robert J. Sicko | Zendy; Ruzong Fan | Zendy; Aiyi Liu | Zendy; Michele Caggana | Zendy; Marilyn L. Browne | Zendy; Charlotte M. Druschel | Zendy; Paul A. Romitti | Zendy; Lawrence C. Brody | Zendy; James L. Mills | Zendy

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Novel copy-number variants in a population-based investigation of classic heterotaxy

Author(s) -

Shan L. Rigler,

Denise M. Kay,

Robert J. Sicko,

Ruzong Fan,

Aiyi Liu,

Michele Caggana,

Marilyn L. Browne,

Charlotte M. Druschel,

Paul A. Romitti,

Lawrence C. Brody,

James L. Mills

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.112

Subject(s) - copy number variation , heterotaxy , biology , genotyping , genetics , microarray , comparative genomic hybridization , phenotype , gene , dna microarray , computational biology , copy number analysis , genetic heterogeneity , genotype , medicine , genome , pathology , gene expression , heart disease

Heterotaxy is a clinically and genetically heterogeneous disorder. We investigated whether screening cases restricted to a classic phenotype would result in the discovery of novel, potentially causal copy-number variants.

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