Research graph
References from Using Molecular Diagnostics for Inherited Retinal Dystrophies: The 6 “I”s That Are Necessary to Diagnose 2 Eyes Genetically. Local targets link to admitted publications; unresolved targets remain external evidence.
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
10.1002/humu.20417 · 2007 · External reference
Pigmentary maculopathy associated with chronic exposure to pentosan polysulfate sodium
10.1016/j.ophtha.2018.04.026 · 2018 · External reference
Concomitant mutations in inherited retinal dystrophies: why the reproductive and therapeutic counselling should be addressed cautiously
10.1097/iae.0000000000003103 · 2021 · 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
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium
10.1016/j.ajhg.2016.03.024 · 2016 · External reference
Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies
10.1016/j.ajhg.2020.09.011 · 2020 · External reference
A method and server for predicting damaging missense mutations
10.1038/nmeth0410-248 · 2010 · External reference
SIFT web server: predicting effects of amino acid substitutions on proteins
10.1093/nar/gks539 · 2012 · External reference
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
10.1093/nar/gkj518 · 2006 · External reference
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
10.1038/nprot.2015.105 · 2015 · External reference
Finding and interpreting genetic variations that are important to ophthalmologists
2003 · External reference
Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy
10.1016/j.ajoc.2019.100461 · 2019 · External reference
Autoimmunity in hereditary retinal degeneration. I. Basic studies
10.1136/bjo.69.1.19 · 1985 · External reference
Autoimmunity in hereditary retinal degenerations. II. Clinical studies: antiretinal antibodies and fluorescein angiogram findings
10.1136/bjo.69.10.758 · 1985 · External reference
Classification of disease severity in retinitis pigmentosa
10.1136/bjophthalmol-2018-313669 · 2019 · External reference
