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References from Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence. Local targets link to admitted publications; unresolved targets remain external evidence.
The genetics of inherited macular dystrophies
10.1136/jmg.40.9.641 · 2003 · External reference
Clinical and molecular characteristics of childhood-onset Stargardt disease
10.1016/j.ophtha.2014.08.012 · 2015 · External reference
The Australian Inherited Retinal Disease Registry and DNA Bank
2020 · External reference
Clinical and genetic characteristics of late-onset Stargardt’s disease
10.1016/j.ophtha.2012.01.005 · 2012 · External reference
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease
10.1016/j.exer.2010.03.021 · 2010 · External reference
Comparison of green versus blue fundus autofluorescence in ABCA4-related retinopathy
10.1167/tvst.7.5.13 · 2018 · External reference
Progression of Stargardt disease as determined by fundus autofluorescence in the retrospective progression of Stargardt disease study (ProgStar report no. 9)
10.1001/jamaophthalmol.2017.4152 · 2017 · External reference
Multi-platform imaging in ABCA4-associated disease
10.1038/s41598-019-42772-z · 2019 · External reference
Ultrawidefield autofluorescence in ABCA4 Stargardt disease
10.1097/iae.0000000000001567 · 2018 · External reference
A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations
10.1167/iovs.13-12104 · 2013 · External reference
Factors influencing retinal pigment epithelium-atrophy progression rate in Stargardt disease
10.1167/tvst.9.7.33 · 2020 · External reference
Quantitative fundus autofluorescence in ABCA4-related retinopathy: functional relevance and genotype-phenotype correlation
10.1016/j.ajo.2020.08.042 · 2020 · External reference
Progression of Stargardt disease as determined by fundus autofluorescence over a 12-month period: ProgStar report no. 11
10.1001/jamaophthalmol.2019.2885 · 2019 · External reference
Differential disease progression in atrophic age-related macular degeneration and late-onset Stargardt disease
10.1167/iovs.16-20980 · 2017 · External reference
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank
10.1111/ceo.12020 · 2013 · External reference
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
10.1016/j.preteyeres.2020.100861 · 2020 · External reference
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration
10.1002/humu.24100 · 2020 · External reference
The effect on retinal structure and function of 15 specific ABCA4 mutations: a detailed examination of 82 hemizygous patients
10.1167/iovs.16-20446 · 2016 · External reference
Unresolved reference
External reference
Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy
10.1586/14737159.2015.1081057 · 2015 · External reference
HGVS recommendations for the description of sequence variants: 2016 update
10.1002/humu.22981 · 2016 · External reference
The genetic profile of Leber congenital amaurosis in an Australian cohort
10.1002/mgg3.321 · 2017 · 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
Consideration of cosegregation in the pathogenicity classification of genomic variants
10.1016/j.ajhg.2016.04.003 · 2016 · External reference
Visual acuities “hand motion” and “counting fingers” can be quantified with the Freiburg visual acuity test
10.1167/iovs.05-0981 · 2006 · External reference
Resolving the clinical acuity categories “hand motion” and “count fingers” using the Freiburg visual acuity test (FrACT)
10.1007/s00417-008-0926-0 · 2009 · External reference
Peripheral visual fields in ABCA4 Stargardt disease and correlation with disease extent on ultra-widefield fundus autofluorescence
10.1016/j.ajo.2017.10.006 · 2017 · External reference
Disease progression in Italian Stargardt patients; a retrospective natural history study
10.1097/iae.0000000000002151 · 2019 · External reference
