Work

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome

Year: 2017

Type: article

Study design: Observational Study

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2017.11.016

Authors: Matthew Jensen, R. Frank Kooy, Tony J. Simon, Edwin Reyniers, Santhosh Girirajan, Flora Tassone

Institutions: Pennsylvania State University, University of Antwerp, University of California Davis Medical Center, University of California, Davis

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

Funders: National Institutes of Health, University of California, Davis, Intellectual and Developmental Disabilities Research Center, National Institute of Mental Health, National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G1088954176, G1870429759, G2748282909, G3040343153, G4096623411, G5144221652, G7853530311, G9000036840, G9000043230, G9000109323, G9000118051, G9000168369, G9000210798

OpenAlex ID: W2768587371

FWCI: 1.309

Cites: 31

Cited by: 18

Related to: 10