Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 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
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.
Chan CM et al.
Retina (philadelphia, Pa.), 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant.
Matsevich C et al.
Ophthalmology Science, 2023
Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
Liu Y et al.
International Journal of Molecular Sciences, 2022
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z et al.
Npj Genomic Medicine, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
Beryozkin A et al.
Scientific Reports, 2020
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D et al.
Human Mutation, 2020
The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.
Ehrenberg M et al.
Molecular Vision, 2019
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom C et al.
Ophthalmic Genetics, 2018
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A et al.
Ophthalmology, 2018
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Beryozkin A et al.
Scientific Reports, 2015
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
Sharon D et al.
Molecular Vision, 2015
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
Zobor D et al.
Molecular Vision, 2014