Associated Papers
Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
Micevych PS et al.
American Journal of Ophthalmology, 2023
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.
Sun LW et al.
Investigative Ophthalmology & Visual Science, 2016
27145477 (PubMed )
Supplement: i1552-5783-57-6-2428-s01.pdf
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
Steele-Stallard HB et al.
Orphanet Journal of Rare Diseases, 2013
23924366 (PubMed )
Supplement: 1750-1172-8-122-S1.xlsx › Sheet1
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P et al.
Journal of Medical Genetics, 2012
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