Associated Papers
The potential use of anti-codon engineered tRNAs (ACE-tRNAs) to treat nonsense variants causing inherited retinal diseases.
Sarma AS et al.
Molecular Aspects of Medicine, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.
Heutinck PAT et al.
Scientific Reports, 2025
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R et al.
Experimental Eye Research, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Bodenbender JP et al.
International Journal of Molecular Sciences, 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
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.
Al-Hindi H et al.
Ophthalmic Genetics, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
The genetics of rod-cone dystrophy in Arab countries: a systematic review.
Jaffal L et al.
European Journal of Human Genetics : Ejhg, 2021
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.
Magliyah M et al.
Ophthalmic Genetics, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Patel N et al.
Clinical Genetics, 2018
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I et al.
Molecular Vision, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
Khan AO et al.
The British Journal of Ophthalmology, 2015
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Guo Y et al.
Ophthalmic Genetics, 2015
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L et al.
Genome Research, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
Ajmal M et al.
Molecular Vision, 2012
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Aldahmesh MA et al.
Molecular Vision, 2009
Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Li Y et al.
Investigative Ophthalmology & Visual Science, 2009