Work

Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems

Year: 2021

Type: article

Abstract: This cross-sectional study examines the gap between best estimates of prevalence and clinical diagnosis of fragile X syndrome by mining the electronic health records of 3.8 million people in Wisconsin.

Source: JAMA Network Open

DOI: 10.1001/jamanetworkopen.2021.41516

Authors: Arezoo Movaghar, David Page, Murray Brilliant, Marsha Mailick

Institutions: University of Wisconsin–Madison, Duke University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,000

Funders: Waisman Center, National Institutes of Health, Intellectual and Developmental Disabilities Research Center, National Human Genome Research Institute, National Institute of Child Health and Human Development, National Center for Advancing Translational Sciences

Awards: G1384629155, G2339885186, G4536884518, G5741685586, G6008033673, Institutional Clinical and Translational Science Award, G6933343930, G7046311054

OpenAlex ID: W4200330077

FWCI: 0.754

Cites: 6

Cited by: 9

Related to: 10