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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 :

  • Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders, Posted on August 1, 2021 by hqqu in Uncategorized
  • O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum, Posted on August 1, 2021 by hqqu in Uncategorized
  • Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series, Posted on July 4, 2021 by hqqu in Uncategorized
  • Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population, Posted on June 27, 2021 by hqqu in Uncategorized
  • Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state, Posted on June 27, 2021 by hqqu in Uncategorized
  • Adult phenotype of KCNQ2 encephalopathy, Posted on June 17, 2021 by hqqu in Uncategorized
  • Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission, Posted on June 17, 2021 by hqqu in Uncategorized
  • A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I, Posted on May 25, 2021 by hqqu in Uncategorized
  • WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome, Posted on May 19, 2021 by hqqu in Uncategorized
  • Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1, Posted on May 19, 2021 by hqqu in Uncategorized
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