Associated Papers
Molecular analysis of RAX2-regulated retinal development using human retinal organoids at a single-cell resolution.
Wang S et al.
Frontiers in Cell and Developmental Biology, 2025
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Van de Sompele S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI et al.
Orphanet Journal of Rare Diseases, 2016
27628848 (PubMed )
Supplement: 13023_2016_505_MOESM1_ESM.pdf
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