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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 :

  • 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
  • Comprehensive characteristics of somatic mutations in the normal tissues of patients with cancer and existence of somatic mutant clones linked to cancer development, Posted on July 27, 2020 by hqqu in Uncategorized
  • Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants, Posted on July 25, 2020 by hqqu in Uncategorized
  • A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss, Posted on July 7, 2020 by hqqu in Uncategorized
  • A novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1, Posted on June 28, 2020 by hqqu in Uncategorized
  • Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits, Posted on June 28, 2020 by hqqu in Uncategorized
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