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About:hqqu

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Huiqi Qu’s research interest is the genetics and functional genomics of human complex diseases (e.g. tuberculosis, obesity, and diabetes). He is working on the genetics and functional genomics of tuberculosis and diabetes. By integrating proteomics, genomics, and GWAS study, they are trying to clarify the molecular mechanisms of tuberculosis susceptibility, and develop genetic markers for diabetes risk prediction.

Posts by hqqu :

  • Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome, Posted on March 14, 2022 by hqqu in Uncategorized
  • Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants, Posted on March 8, 2022 by hqqu in Uncategorized
  • Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome, Posted on March 4, 2022 by hqqu in Uncategorized
  • Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility, Posted on March 1, 2022 by hqqu in Uncategorized
  • Patient-derived cellular models of primary ciliopathies, Posted on February 20, 2022 by hqqu in Uncategorized
  • Complete loss of the X-linked gene CASK causes severe cerebellar degeneration, Posted on February 13, 2022 by hqqu in Uncategorized
  • Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer, Posted on February 11, 2022 by hqqu in Uncategorized
  • RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders, Posted on February 9, 2022 by hqqu in Uncategorized
  • Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis, Posted on February 4, 2022 by hqqu in Uncategorized
  • Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants, Posted on January 25, 2022 by hqqu in Uncategorized
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