Associated Papers
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.
Van Vooren E et al.
Investigative Ophthalmology & Visual Science, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.
Vooren EV et al.
Research Square, 2025
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
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
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
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C et al.
Hgg Advances, 2023
Alternative RNA Splicing in the Retina: Insights and Perspectives.
Keuthan CJ et al.
Cold Spring Harbor Perspectives in Medicine, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 2023
Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.
Aleman TS et al.
Ophthalmic Genetics, 2022
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial.
Cideciyan AV et al.
Ophthalmology Science, 2022
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.
Russell SR et al.
Nature Medicine, 2022
PDE6B Mutation-associated Inherited Retinal Disease.
Marconi S et al.
International Ophthalmology Clinics, 2021
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2021
Molecular genetics of renal ciliopathies.
Barroso-Gil M et al.
Biochemical Society Transactions, 2021
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.
Leroy BP et al.
Retina (philadelphia, Pa.), 2021
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Skorczyk-Werner A et al.
Orphanet Journal of Rare Diseases, 2020
Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases.
Xue K et al.
Expert Opinion on Investigational Drugs, 2020
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation.
Williamson M et al.
Ophthalmic Genetics, 2020
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
Feldhaus B et al.
American Journal of Ophthalmology, 2020
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom SA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?
Barny I et al.
Genes, 2019
[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
Preising MN et al.
Klinische Monatsblatter Fur Augenheilkunde, 2019
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Dulla K et al.
Molecular Therapy. Nucleic Acids, 2018
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Valkenburg D et al.
Investigative Ophthalmology & Visual Science, 2018
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
Sheck L et al.
Ophthalmology, 2018
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.
Roosing S et al.
Genes, 2017
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2017
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M et al.
Scientific Reports, 2017
From disease modelling to personalised therapy in patients with CEP290 mutations.
Molinari E et al.
F1000research, 2017
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
Litchfield K et al.
Nature Communications, 2016
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver AJ et al.
Genetic Testing and Molecular Biomarkers, 2016
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY et al.
European Journal of Human Genetics : Ejhg, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
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
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
Retinal optogenetic therapies: clinical criteria for candidacy.
Jacobson SG et al.
Clinical Genetics, 2013