Work

A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

Year: 2019

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1038/s41436-019-0495-0

Authors: Charles J. Wolock, Nicholas Stong, Chu Jian Ma, Takayuki Nagasaki, Winston Lee, Stephen H. Tsang, Sitharthan Kamalakaran, David B. Goldstein, Rando Allikmets

Institutions: Columbia University, Columbia University Irving Medical Center

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Research to Prevent Blindness, National Institutes of Health, National Eye Institute

Awards: G1305710594, Precision medicine for ABCA4 disease: modifier alleles, G2648776141, Core Facilities for Vision Research, G737831313

OpenAlex ID: W2933489383

FWCI: 1.741

Cites: 39

Cited by: 31

Related to: 10