Work

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Year: 2012

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1038/gim.2011.65

Authors: Swaroop Aradhya, Rachel Lewis, Tahrra Bonaga, Nnenna Nwokekeh, Amanda Stafford, Barbara Boggs, Kathleen Hruska, Nizar Smaoui, John G. Compton, Gabriele Richard, Sharon Suchy

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2003517205

FWCI: 4.053

Cites: 38

Cited by: 59

Related to: 10