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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 :

  • Complex pathway to identification of Fanconi anaemia due to biallelic BRCA2 variants presenting as severe chemotherapy toxicity in adulthood, Posted on October 28, 2021 by hqqu in Uncategorized
  • SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum, Posted on October 23, 2021 by hqqu in Uncategorized
  • NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation, Posted on October 23, 2021 by hqqu in Uncategorized
  • SOX10: twenty years of phenotypic plurality and current understanding of its developmental function, Posted on October 21, 2021 by hqqu in Uncategorized
  • Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex, Posted on October 15, 2021 by hqqu in Uncategorized
  • Biallelic variants in ZFP36L2 cause female infertility characterized by recurrent preimplantation embryo arrest, Posted on October 7, 2021 by hqqu in Uncategorized
  • Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing, Posted on September 25, 2021 by hqqu in Uncategorized
  • A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium, Posted on September 21, 2021 by hqqu in Uncategorized
  • Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality, Posted on September 8, 2021 by hqqu in Uncategorized
  • Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review, Posted on September 2, 2021 by hqqu in Uncategorized
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