Associated Papers
Clinical and molecular findings in children with retinitis pigmentosa.
Li C et al.
Ophthalmic Genetics, 2024
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.
Shi J et al.
Journal of Clinical Medicine, 2021
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
Glen WB et al.
Ophthalmic Genetics, 2019
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.
Srikrupa NN et al.
Clinical Genetics, 2018
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maria M et al.
Plos One, 2015
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
Kabir F et al.
Molecular Vision, 2013
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