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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 :

  • Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts, Posted on March 3, 2017 by hqqu in Uncategorized
  • A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi Family, Posted on January 31, 2017 by hqqu in Uncategorized
  • GPRASP2, a Novel Causative Gene implicated in an X-Linked Recessive Syndromic Hearing Loss, Posted on January 17, 2017 by hqqu in Uncategorized
  • A liminal stage after predictive testing for Huntington disease, Posted on January 13, 2017 by hqqu in Uncategorized
  • No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells, Posted on January 9, 2017 by hqqu in Uncategorized
  • Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy, Posted on December 28, 2016 by hqqu in Uncategorized
  • Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B, Posted on December 22, 2016 by hqqu in Uncategorized
  • Precise long non-coding RNA modulation in visual maintenance and impairment, Posted on December 21, 2016 by hqqu in Uncategorized
  • Diagnostic value of exome and whole genome sequencing in craniosynostosis, Posted on December 14, 2016 by hqqu in Uncategorized
  • Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix, Posted on December 13, 2016 by hqqu in Uncategorized
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