Associated Papers
Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.
Abiib S et al.
Genes, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.
Capasso D et al.
Hgg Advances, 2025
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
Zeuli R et al.
Hgg Advances, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Yi Z et al.
Eye (london, England), 2022
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.
Jinda W et al.
Investigative Ophthalmology & Visual Science, 2017
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Wang S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015