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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 :

  • The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss, Posted on June 18, 2025 by hqqu in Uncategorized
  • Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025, Posted on June 9, 2025 by hqqu in Uncategorized
  • De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy, Posted on June 9, 2025 by hqqu in Uncategorized
  • Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry, Posted on June 9, 2025 by hqqu in Uncategorized
  • A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature review, Posted on June 4, 2025 by hqqu in Uncategorized
  • Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese, Posted on June 4, 2025 by hqqu in Uncategorized
  • Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy, Posted on May 20, 2025 by hqqu in Uncategorized
  • Identification of MACF1 as a causative gene of generalised epilepsy, Posted on May 12, 2025 by hqqu in Uncategorized
  • Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis, Posted on May 3, 2025 by hqqu in Uncategorized
  • Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes, Posted on April 22, 2025 by hqqu in Uncategorized
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