Author

Jessica Johnson

Institution: University of Rochester Medicine

Observed institutions: University of Rochester Medicine, University of Rochester

OpenAlex ID: A5043895048

Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants

2022 · Justin Rosati, Jessica Johnson, et al. · American Journal of Medical Genetics Part A · 14

eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?

2022 · Zinandré Stander, Justin Rosati, et al. · Genetics in Medicine · 2

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I

2026 · Zinandré Stander, Amy L. White, et al. · International Journal of Neonatal Screening · 1

Works count: 3

Citation count: 17

H-index: 2

I10-index: 1