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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 :

  • A new platform for RNA-based diagnosis of cancer predisposition syndromes, Posted on January 5, 2023 by hqqu in Uncategorized
  • Development of a comprehensive approach to adult hereditary cancer testing in Ontario, Posted on January 5, 2023 by hqqu in Uncategorized
  • Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function, Posted on December 22, 2022 by hqqu in Uncategorized
  • A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome, Posted on December 12, 2022 by hqqu in Uncategorized
  • Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines, Posted on December 7, 2022 by hqqu in Uncategorized
  • Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects, Posted on December 1, 2022 by hqqu in Uncategorized
  • Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders, Posted on December 1, 2022 by hqqu in Uncategorized
  • Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis, Posted on November 27, 2022 by hqqu in Uncategorized
  • UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2, Posted on November 22, 2022 by hqqu in Uncategorized
  • Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1, Posted on November 22, 2022 by hqqu in Uncategorized
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