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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 :

  • Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective, Posted on June 9, 2024 by hqqu in Uncategorized
  • Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers, Posted on June 5, 2024 by hqqu in Uncategorized
  • Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene, Posted on June 4, 2024 by hqqu in Uncategorized
  • ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death, Posted on June 4, 2024 by hqqu in Uncategorized
  • Variant classification changes over time in the clinical molecular diagnostic laboratory setting, Posted on May 29, 2024 by hqqu in Uncategorized
  • An expanded targeted preconception screening panel in Israel – findings and insights, Posted on May 8, 2024 by hqqu in Uncategorized
  • Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression, Posted on May 8, 2024 by hqqu in Uncategorized
  • Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein, Posted on April 27, 2024 by hqqu in Uncategorized
  • Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism, Posted on April 15, 2024 by hqqu in Uncategorized
  • Pathogenic variant detection rate varies considerably in Male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2, Posted on April 12, 2024 by hqqu in Uncategorized
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