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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 :

  • TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents, Posted on September 24, 2020 by hqqu in Uncategorized
  • Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex, Posted on September 24, 2020 by hqqu in Uncategorized
  • Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations, Posted on September 24, 2020 by hqqu in Uncategorized
  • Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy, Posted on September 17, 2020 by hqqu in Uncategorized
  • De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes, Posted on September 17, 2020 by hqqu in Uncategorized
  • 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
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