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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 :

  • Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant, Posted on August 24, 2017 by hqqu in Uncategorized
  • Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci, Posted on August 16, 2017 by hqqu in Uncategorized
  • Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability, Posted on August 9, 2017 by hqqu in Uncategorized
  • Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability, Posted on August 9, 2017 by hqqu in Uncategorized
  • A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct, Posted on August 5, 2017 by hqqu in Uncategorized
  • Increased Breast Cancer Risk in MSH2 Carriers from a Large Canadian Familial Cancer Registry, Posted on August 4, 2017 by hqqu in Uncategorized
  • Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders, Posted on July 28, 2017 by hqqu in Uncategorized
  • A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges, Posted on July 28, 2017 by hqqu in Uncategorized
  • Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix, Posted on July 22, 2017 by hqqu in Uncategorized
  • Assessing genome-wide copy number variation in the Han Chinese population, Posted on July 13, 2017 by hqqu in Uncategorized
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