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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 :

  • Determinants of quality of life in Rett syndrome: new findings on associations with genotype, Posted on August 26, 2020 by hqqu in Uncategorized
  • Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency, Posted on August 26, 2020 by hqqu in Uncategorized
  • Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment, Posted on August 21, 2020 by hqqu in Uncategorized
  • Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population, Posted on August 18, 2020 by hqqu in Uncategorized
  • Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa, Posted on August 18, 2020 by hqqu in Uncategorized
  • Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy, Posted on August 5, 2020 by hqqu in Uncategorized
  • Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis, Posted on August 1, 2020 by hqqu in Uncategorized
  • Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms, Posted on August 1, 2020 by hqqu in Uncategorized
  • Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy, Posted on August 1, 2020 by hqqu in Uncategorized
  • Prenatal clinical manifestations in individuals with COL4A1/2 variants, Posted on August 1, 2020 by hqqu in Uncategorized
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