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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 :

  • Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer, Posted on November 24, 2018 by hqqu in Uncategorized
  • Mapping of breakpoints in balanced chromosomal translocations by shallow whole genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders, Posted on November 21, 2018 by hqqu in Uncategorized
  • Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome of unknown etiology, Posted on November 21, 2018 by hqqu in Uncategorized
  • Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect, Posted on November 21, 2018 by hqqu in Uncategorized
  • Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment, Posted on November 21, 2018 by hqqu in Uncategorized
  • From gestalt to gene: early predictive dysmorphic features of PMM2-CDG, Posted on November 21, 2018 by hqqu in Uncategorized
  • Cancer immunotherapy: challenges and clinical applications, Posted on November 21, 2018 by hqqu in Uncategorized
  • Practice evaluation of biobank ethics and governance: current needs and future perspectives, Posted on November 21, 2018 by hqqu in Uncategorized
  • Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella, Posted on November 10, 2018 by hqqu in Uncategorized
  • Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy, Posted on November 10, 2018 by hqqu in Uncategorized
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