Research graph
References from INHERITED RETINAL DISEASE MANAGEMENT IN THE UNITED STATES. Local targets link to admitted publications; unresolved targets remain external evidence.
Inherited retinal degenerations: current landscape and knowledge gaps
10.1167/tvst.7.4.6 · 2018 · External reference
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
10.1073/pnas.1913179117 · 2020 · External reference
Trends and disparities in the incidence and prevalence of inherited retinal diseases in the United States
10.1016/j.ajo.2025.07.021 · 2025 · External reference
Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutation-associated inherited retinal dystrophy: results of phase 1 and 3 trials
10.1016/j.ophtha.2019.06.017 · 2019 · External reference
Update on clinical trial endpoints in gene therapy trials for inherited retinal diseases
10.3390/jcm13185512 · 2024 · External reference
Novel therapies for inherited retinal dystrophies
10.3390/jcm13237358 · 2024 · External reference
Practice patterns and challenges in managing inherited retinal diseases across Asia-Pacific: a survey from the APIED network
10.1016/j.apjo.2024.100098 · 2024 · External reference
Current management of inherited retinal degeneration patients in Europe: results of a 2-Year Follow-Up multinational survey by the European Vision Institute clinical research network - evicr.net
10.1159/000528716 · 2023 · External reference
Limited genomics training among physicians remains a barrier to genomics-based implementation of precision medicine
10.3389/fmed.2022.757212 · 2022 · External reference
Current management of inherited retinal degenerations in Portugal (IRD-PT survey)
10.1038/s41598-024-72589-4 · 2024 · External reference
Challenges to routine genetic testing for inherited retinal dystrophies
10.1016/j.ophtha.2019.04.031 · 2019 · External reference
Association of No-Cost genetic testing program implementation and patient characteristics with access to genetic testing for inherited retinal degenerations
10.1001/jamaophthalmol.2021.0004 · 2021 · External reference
Comparison of the results of sponsored genetic testing panels for inherited retinal diseases
10.3390/jcm13113118 · 2024 · External reference
Trends in availability of genetic tests in the United States, 2012-2022
10.3390/jpm13040638 · 2023 · External reference
Assessing genetic literacy awareness and knowledge gaps in the US population: results from the Health Information National Trends Survey
10.1159/000489117 · 2017 · External reference
Awareness and use of genetic testing: an analysis of the Health Information National Trends Survey 2020
10.1016/j.gim.2022.08.023 · 2022 · External reference
The state of cell and gene therapy in 2023
10.1016/j.ymthe.2023.11.001 · 2023 · External reference
The evolving role of genetics in ophthalmology
10.1080/13816810.2020.1868011 · 2021 · External reference
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment
10.1080/13816810.2023.2239910 · 2023 · External reference
Projecting the supply and demand for certified genetic counselors: a workforce Study
10.1007/s10897-017-0158-8 · 2018 · External reference
A landscape assessment of Medicaid recognition for genetic counselors
10.1002/jgc4.70057 · 2025 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Variant reclassification and clinical implications
10.1136/jmg-2023-109488 · 2024 · External reference
