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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 :

  • Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400, Posted on December 17, 2023 by hqqu in Uncategorized
  • Reduced penetrance of gene variants causing amyotrophic lateral sclerosis, Posted on December 17, 2023 by hqqu in Uncategorized
  • Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia, Posted on December 2, 2023 by hqqu in Uncategorized
  • Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice, Posted on November 30, 2023 by hqqu in Uncategorized
  • Clinical and genetic spectrum of RNF216-related disorder: A new case and literature review, Posted on November 30, 2023 by hqqu in Uncategorized
  • Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta, Posted on November 20, 2023 by hqqu in Uncategorized
  • Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries, Posted on November 20, 2023 by hqqu in Uncategorized
  • Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomized phase 3 BALANCE study, Posted on November 10, 2023 by hqqu in Uncategorized
  • Titin copy number variations associated with dominant inherited phenotypes, Posted on November 8, 2023 by hqqu in Uncategorized
  • Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy, Posted on November 5, 2023 by hqqu in Uncategorized
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