An Overview of the Genetics of <i>ABCA4</i> Retinopathies, an Evolving Story

by Saoud Al-Khuzaei, Suzanne Broadgate, Charlotte R. Foster, Mital Shah, Jing Yu, Susan M. Downes, Stephanie Halford
Published 2021-08-01

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

by Susan M. Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E. MacLaren, Morag Shanks, Penny Clouston, Stephanie Halford
Published 2020-12-01