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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 :

  • Resolving structural variations missed by short-read sequencing uncovers their pathogenicity, Posted on August 26, 2025 by hqqu in Uncategorized
  • Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort, Posted on August 20, 2025 by hqqu in Uncategorized
  • First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked, Posted on August 20, 2025 by hqqu in Uncategorized
  • Homologous recombination deficiency in unselected high-grade ovarian carcinoma, Posted on August 14, 2025 by hqqu in Uncategorized
  • New patients with duplication of the pituitary gland–plus syndrome, including a PTCH2 variant and a literature review, Posted on August 14, 2025 by hqqu in Uncategorized
  • Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort, Posted on August 14, 2025 by hqqu in Uncategorized
  • Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants, Posted on August 14, 2025 by hqqu in Uncategorized
  • Congenital heart disease in 22q11.2 Deletion syndrome: meta-analysis and systematic review of the literature, Posted on August 4, 2025 by hqqu in Uncategorized
  • Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration, Posted on August 4, 2025 by hqqu in Uncategorized
  • ‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors, Posted on July 31, 2025 by hqqu in Uncategorized
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