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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 :

  • MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1, Posted on March 10, 2023 by hqqu in Uncategorized
  • Update of penetrance estimates in Birt-Hogg-Dubé syndrome, Posted on March 1, 2023 by hqqu in Uncategorized
  • Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG), Posted on March 1, 2023 by hqqu in Uncategorized
  • Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2, Posted on February 23, 2023 by hqqu in Uncategorized
  • Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations, Posted on January 23, 2023 by hqqu in Uncategorized
  • Biallelic frameshift variants in PHLDB1 cause mild type Osteogenesis Imperfecta with regressive spondylometaphyseal changes, Posted on January 13, 2023 by hqqu in Uncategorized
  • Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events, Posted on January 13, 2023 by hqqu in Uncategorized
  • Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences, Posted on January 13, 2023 by hqqu in Uncategorized
  • Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes, Posted on January 13, 2023 by hqqu in Uncategorized
  • FXN gene methylation determines carrier status in Friedreich ataxia, Posted on January 13, 2023 by hqqu in Uncategorized
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