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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 :

  • Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies, Posted on September 12, 2020 by hqqu in Uncategorized
  • Loss-of-function variants in POT1 predispose to uveal melanoma, Posted on September 12, 2020 by hqqu in Uncategorized
  • Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome, Posted on September 9, 2020 by hqqu in Uncategorized
  • RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports, Posted on September 9, 2020 by hqqu in Uncategorized
  • A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function, Posted on August 26, 2020 by hqqu in Uncategorized
  • 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
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