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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 :

  • Variant classification changes over time in the clinical molecular diagnostic laboratory setting (Contributed by Elan Hahn), Posted on May 29, 2024 by hqqu in Uncategorized
  • An expanded targeted preconception screening panel in Israel – findings and insights (Contributed by Hagit Baris Feldman, M.D.), Posted on May 8, 2024 by hqqu in Uncategorized
  • Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression (Contributed by Betiana M. Ziegler, Claudia P. Radic and Carlos D. De Brasi in behalf of authors), Posted on May 8, 2024 by hqqu in Uncategorized
  • Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein (Contributed by Dr Konark Mukherjee), Posted on April 27, 2024 by hqqu in Uncategorized
  • Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism (Contributed by Dr. Jianhai Chen), Posted on April 15, 2024 by hqqu in Uncategorized
  • Pathogenic variant detection rate varies considerably in Male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 (Contributed by Professor Evans Gareth), Posted on April 12, 2024 by hqqu in Uncategorized
  • BRCA awareness and testing experience in the UK Jewish population: a qualitative study (Contributed by Prof Ranjit Manchanda), Posted on April 5, 2024 by hqqu in Uncategorized
  • Phenotypic characterisation of SMAD4 variant carriers (Contributed by Dr Sophie Dupuis-Girod), Posted on April 5, 2024 by hqqu in Uncategorized
  • Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome (Contributed by Drs. Susanna Balcells and Mónica Centeno), Posted on March 29, 2024 by hqqu in Uncategorized
  • A comparative medical genomics approach may facilitate the interpretation of rare missense variation (Contributed by Bushra Haque MSc), Posted on March 21, 2024 by hqqu in Uncategorized
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