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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 :

  • 15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes, Posted on March 13, 2017 by hqqu in Uncategorized
  • Novel and known ribosomal causes of Diamond-Blackfan anemia identified through comprehensive genomic characterization, Posted on March 9, 2017 by hqqu in Uncategorized
  • A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis, Posted on March 6, 2017 by hqqu in Uncategorized
  • 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
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