Associated Papers
Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.
Ibrahim M et al.
Ophthalmology Science, 2026
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.
Capasso D et al.
Hgg Advances, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 2025
Clinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.
Lee YJ et al.
American Journal of Ophthalmology, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9.
Neissi M et al.
Clinical Case Reports, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
Zeuli R et al.
Hgg Advances, 2024
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.
Lopez-de la Rosa A et al.
Orphanet Journal of Rare Diseases, 2024
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.
Moya R et al.
International Journal of Molecular Sciences, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA et al.
Bmc Ophthalmology, 2024
Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.
Awuah WA et al.
Sage Open Medicine, 2024
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
Sadr Z et al.
Neuromuscular Disorders : Nmd, 2023
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Skorczyk-Werner A et al.
Journal of Applied Genetics, 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 Diagnosis for 64 Patients with Inherited Retinal Disease.
Lynn J et al.
Genes, 2022
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
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.
Kayazawa T et al.
Ophthalmic Genetics, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.
Bedoukian EC et al.
Retinal Cases & Brief Reports, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon.
Jaffal L et al.
Frontiers in Genetics, 2022