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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 :

  • Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts, Posted on December 16, 2021 by hqqu in Uncategorized
  • Loeys-Dietz and Shprintzen-Goldberg Syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multi-modality method, Posted on December 16, 2021 by hqqu in Uncategorized
  • New locus underlying familial adenomatous polyposis: 3.9 MB rearrangement disrupting APC expression, Posted on December 15, 2021 by hqqu in Uncategorized
  • Biallelic ANGPT2 loss-of-function causes severe early onset nonimmune hydrops fetalis, Posted on December 9, 2021 by hqqu in Uncategorized
  • Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study, Posted on December 9, 2021 by hqqu in Uncategorized
  • Pharmacogenomic testing and prescribing patterns for cancer patients in a large national precision medicine cohort, Posted on December 9, 2021 by hqqu in Uncategorized
  • Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14), Posted on November 24, 2021 by hqqu in Uncategorized
  • 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
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