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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 :

  • Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation, Posted on September 26, 2025 by hqqu in Uncategorized
  • The Genetics Behind Nanophthalmos, Posted on September 26, 2025 by hqqu in Uncategorized
  • GAPO syndrome: a comprehensive examination and review of 105 clinical cases, Posted on September 26, 2025 by hqqu in Uncategorized
  • Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus, Posted on September 26, 2025 by hqqu in Uncategorized
  • Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder, Posted on September 26, 2025 by hqqu in Uncategorized
  • Six at Sixty. ‘No gain, no pain’: medical genetics taking Nav1.7 from target to pharmacy, Posted on September 17, 2025 by hqqu in Uncategorized
  • Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement, Posted on September 17, 2025 by hqqu in Uncategorized
  • Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification, Posted on September 10, 2025 by hqqu in Uncategorized
  • Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with Parkinsonism, Posted on September 10, 2025 by hqqu in Uncategorized
  • Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia, Posted on September 10, 2025 by hqqu in Uncategorized
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