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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 :

  • 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
  • Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation, Posted on September 2, 2023 by hqqu in Uncategorized
  • TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy, Posted on September 2, 2023 by hqqu in Uncategorized
  • Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer, Posted on August 18, 2023 by hqqu in Uncategorized
  • Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature, Posted on August 18, 2023 by hqqu in Uncategorized
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