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In silico methods for predicting functional synonymous variants.
Lin BC, Katneni U, Jankowska KI, Meyer D, Kimchi-Sarfaty C. Lin BC, et al. Among authors: kimchi sarfaty c. Genome Biol. 2023 May 22;24(1):126. doi: 10.1186/s13059-023-02966-1. Genome Biol. 2023. PMID: 37217943 Free PMC article. Review.
Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family.
Kim B, Hing ZA, Wu A, Schiller T, Struble EB, Liuwantara D, Kempert PH, Broxham EJ, Edwards NC, Marder VJ, Simhadri VL, Sauna ZE, Howard TE, Kimchi-Sarfaty C. Kim B, et al. Br J Haematol. 2014 Apr;165(1):154-8. doi: 10.1111/bjh.12713. Epub 2014 Jan 16. Br J Haematol. 2014. PMID: 24433405 Free article. No abstract available.
P-glycoprotein: from genomics to mechanism.
Ambudkar SV, Kimchi-Sarfaty C, Sauna ZE, Gottesman MM. Ambudkar SV, et al. Oncogene. 2003 Oct 20;22(47):7468-85. doi: 10.1038/sj.onc.1206948. Oncogene. 2003. PMID: 14576852 Review.
91 results