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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 :

  • Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation, Posted on September 2, 2023 by hqqu in Uncategorized
  • TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy, Posted on September 2, 2023 by hqqu in Uncategorized
  • Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer, Posted on August 18, 2023 by hqqu in Uncategorized
  • Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature, Posted on August 18, 2023 by hqqu in Uncategorized
  • Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients, Posted on August 18, 2023 by hqqu in Uncategorized
  • Clinical, genetic and biochemical signatures of RBP4-related ocular malformations, Posted on August 18, 2023 by hqqu in Uncategorized
  • Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project, Posted on August 10, 2023 by hqqu in Uncategorized
  • Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition, Posted on August 7, 2023 by hqqu in Uncategorized
  • CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources, Posted on August 7, 2023 by hqqu in Uncategorized
  • Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes, Posted on August 7, 2023 by hqqu in Uncategorized
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