Associated Papers
CRB1 mutations cause structural and molecular defects in patient-derived retinal pigment epithelium cells.
Wang Y et al.
Experimental Eye Research, 2025
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.
Toyama M et al.
Plos One, 2022
35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1
Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.
Zhou Y et al.
Stem Cell Research, 2020
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS1.xlsx › Sheet1
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y et al.
Human Genetics, 2014
Molecular characterization of Leber congenital amaurosis in Koreans.
Seong MW et al.
Molecular Vision, 2008
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