Work

A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing

Year: 2024

Type: article

Study design: Observational Study

Source: Pediatric Neurology

DOI: 10.1016/j.pediatrneurol.2024.09.009

Authors: Nitish Chourasia, Rohan Vaidya, Soham Sengupta, Heather C. Mefford, James Wheless

Institutions: University of Tennessee Health Science Center, St. Jude Children's Research Hospital

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4402510116

FWCI: 1.445

Cites: 17

Cited by: 6

Related to: 10