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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 :

  • Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS, Posted on June 26, 2025 by hqqu in Uncategorized
  • Reproductive decision-making and pregnancy in germline CDH1 variant carriers, Posted on June 26, 2025 by hqqu in Uncategorized
  • Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes, Posted on June 18, 2025 by hqqu in Uncategorized
  • 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
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