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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 :

  • KIF21-associated peripheral neuropathy defined by impaired binding with TUBB3, Posted on December 9, 2024 by hqqu in Uncategorized
  • National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy, Posted on December 2, 2024 by hqqu in Uncategorized
  • Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study, Posted on November 12, 2024 by hqqu in Uncategorized
  • WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females, Posted on October 29, 2024 by hqqu in Uncategorized
  • Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study, Posted on October 22, 2024 by hqqu in Uncategorized
  • Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank, Posted on October 8, 2024 by hqqu in Uncategorized
  • UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression, Posted on October 8, 2024 by hqqu in Uncategorized
  • Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing, Posted on October 8, 2024 by hqqu in Uncategorized
  • Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes, Posted on September 27, 2024 by hqqu in Uncategorized
  • Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access, Posted on September 27, 2024 by hqqu in Uncategorized
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