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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 :

  • Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects, Posted on December 1, 2022 by hqqu in Uncategorized
  • Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders, Posted on December 1, 2022 by hqqu in Uncategorized
  • Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis, Posted on November 27, 2022 by hqqu in Uncategorized
  • UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2, Posted on November 22, 2022 by hqqu in Uncategorized
  • Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1, Posted on November 22, 2022 by hqqu in Uncategorized
  • Characterising heart rhythm abnormalities associated with Xp22.31 deletion by Wren et al., Posted on November 17, 2022 by hqqu in Uncategorized
  • X-linked variations in SHROOM4 are implicated in multiple congenital anomalies of the urinary tract, the anorectal, the cardiovascular, and the central nervous system, Posted on November 17, 2022 by hqqu in Uncategorized
  • Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement, Posted on November 11, 2022 by hqqu in Uncategorized
  • Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2, Posted on November 4, 2022 by hqqu in Uncategorized
  • The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2, Posted on November 2, 2022 by hqqu in Uncategorized
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