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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 :

  • Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome, Posted on October 12, 2023 by hqqu in Uncategorized
  • Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study, Posted on October 6, 2023 by hqqu in Uncategorized
  • Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature, Posted on October 4, 2023 by hqqu in Uncategorized
  • Exploring the Link Between Congenital Vertebral Malformations and Neural Tube Defects, Posted on October 1, 2023 by hqqu in Uncategorized
  • Carriers of autosomal recessive conditions: are they really ‘unaffected?’, Posted on October 1, 2023 by hqqu in Uncategorized
  • Recessive MECR pathogenic variants cause a LHON-like optic neuropathy, Posted on September 22, 2023 by hqqu in Uncategorized
  • Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review, Posted on September 13, 2023 by hqqu in Uncategorized
  • HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element, Posted on September 2, 2023 by hqqu in Uncategorized
  • Adaptive Nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication, Posted on September 2, 2023 by hqqu in Uncategorized
  • Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant, Posted on September 2, 2023 by hqqu in Uncategorized
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