Associated Papers
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
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM6_ESM.xlsx › Sheet1
Targeting sulfation-dependent mechanoreciprocity between matrix and osteoblasts to mitigate bone loss.
Zheng C et al.
Science Translational Medicine, 2023
Phenotypic characterization of Slc26a2 mutant mice reveals a multifactorial etiology of spondylolysis.
Zheng C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.
Li Z et al.
Human Mutation, 2017
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Cai T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
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