Associated Papers
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Wang Y et al.
The British Journal of Ophthalmology, 2023
36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf
Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.
Miliotou AN et al.
Pharmaceutics, 2023
Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.
González-Iglesias E et al.
International Journal of Molecular Sciences, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S1.pdf
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4c_-_Rare_alleles
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.
Cai XB et al.
Investigative Ophthalmology & Visual Science, 2019
Exome Sequence Analysis of 14 Families With High Myopia.
Kloss BA et al.
Investigative Ophthalmology & Visual Science, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Pacheu-Grau D et al.
Cell Metabolism, 2015
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D et al.
Investigative Ophthalmology & Visual Science, 2014
Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome.
Arai E et al.
International Journal of Cancer, 2014
24504440 (PubMed )
Supplement: ijc0135-1330-sd8.pdf
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Tran-Viet KN et al.
American Journal of Human Genetics, 2013
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