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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 :

  • Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature (Contributed by Dianne Sylvester), Posted on October 4, 2018 by hqqu in Uncategorized
  • Mosaicism and incomplete penetrance of PCDH19 mutations (Contributed by Dr. Aijie Liu), Posted on October 4, 2018 by hqqu in Uncategorized
  • Leveraging the Power of New Molecular Technologies in the Clinical Setting Requires Unprecedented Awareness of Limitations and Drawbacks: Experience of One Diagnostic Laboratory (Contributed by Dr. Landry Nfonsam), Posted on September 23, 2018 by hqqu in Uncategorized
  • Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy (Contributed by Dr. Sheng Zeng), Posted on September 7, 2018 by hqqu in Uncategorized
  • Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants (Contributed by Prof. Jian Huang), Posted on August 30, 2018 by hqqu in Uncategorized
  • Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM) (Contributed by Dr. Sen Zhao), Posted on August 17, 2018 by hqqu in Uncategorized
  • Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa (Contributed by Ms. Susanne Roosing), Posted on August 17, 2018 by hqqu in Uncategorized
  • Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis (Contributed by Dr. Bo Zhou), Posted on July 30, 2018 by hqqu in Uncategorized
  • Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children (Contributed by Dr. Hywel Williams), Posted on July 26, 2018 by hqqu in Uncategorized
  • XRCC2 mutation causes meiotic arrest, azoospermia and infertility (Contributed by Dr Yongjia Yang), Posted on July 24, 2018 by hqqu in Uncategorized
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