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About:hqqu

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Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.

Posts by hqqu :

  • Development of a comprehensive approach to adult hereditary cancer testing in Ontario (Contributed by Kathleen Bell), Posted on January 5, 2023 by hqqu in Uncategorized
  • Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function (Contributed by Rebecca Tooze), Posted on December 22, 2022 by hqqu in Uncategorized
  • A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome (Contributed by Dr. Xiaorong Liu), Posted on December 12, 2022 by hqqu in Uncategorized
  • Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines (Contributed by Dr. Xi Luo), Posted on December 7, 2022 by hqqu in Uncategorized
  • Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects (Contributed by Dr. Zhaohui Wang), 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 (Contributed by Estela Carrasco), 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 (Contributed by Prof. Danilo Tiziano), 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 (Contributed by Dr Helen Hanson), Posted on November 22, 2022 by hqqu in Uncategorized
  • Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1 (Contributed by Dr. Alistair T Pagnamenta), Posted on November 22, 2022 by hqqu in Uncategorized
  • Characterising heart rhythm abnormalities associated with Xp22.31 deletion by Wren et al. (Contributed by Dr William Davies), Posted on November 17, 2022 by hqqu in Uncategorized
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