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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 :

  • 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
  • Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations, Posted on July 18, 2025 by hqqu in Uncategorized
  • AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases, Posted on July 18, 2025 by hqqu in Uncategorized
  • Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression, Posted on July 12, 2025 by hqqu in Uncategorized
  • Evaluation of whole-body MRI for cancer early detection in Li-Fraumeni syndrome, Posted on July 4, 2025 by hqqu in Uncategorized
  • Investigating the use of a patient-facing digital app to support Lynch syndrome carriers in the management of their condition, Posted on July 4, 2025 by hqqu in Uncategorized
  • Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations, Posted on July 4, 2025 by hqqu in Uncategorized
  • New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort, Posted on June 26, 2025 by hqqu in Uncategorized
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