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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 :

  • Variable skeletal phenotypes associated with biallelic variants in PRKG2, Posted on November 16, 2021 by hqqu in Uncategorized
  • New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements, Posted on November 11, 2021 by hqqu in Uncategorized
  • Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex, Posted on November 8, 2021 by hqqu in Uncategorized
  • 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
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