Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients

by Saoud Al-khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K. Jolly, Morag Shanks, Penny Clouston, Susan M. Downes
Published 2020-10-01

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

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

by Saoud Al-Khuzaei, Karl A. Z. Hudspith, Suzanne Broadgate, Morag E. Shanks, Penny Clouston, Andrea H. Németh, Stephanie Halford, Susan M. Downes
Published 2021-04-01

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