Associated Papers
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM19_ESM.xlsx › Supplementary_Data_16
Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.
Park JH et al.
Translational Oncology, 2018
29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Dranchak PK et al.
Journal of Cellular Biochemistry, 2011
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Gootjes J et al.
Pediatric Research, 2004
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Shimozawa N et al.
Journal of Medical Genetics, 1999
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
Shimozawa N et al.
Human Mutation, 1998
Molecular defects in genetic diseases of peroxisomes.
Fujiki Y
Biochimica Et Biophysica Acta, 1997
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