Associated Papers
Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.
Aghajani J et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2025
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.
Marwan M et al.
Bmc Ophthalmology, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Salmaninejad A et al.
Scientific Reports, 2020
Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa.
Liu S et al.
Molecular Genetics & Genomic Medicine, 2019
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