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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 :

  • Clinical and genetic spectrum of RNF216-related disorder: A new case and literature review (Contributed by Dr. Chujun Wu), Posted on November 30, 2023 by hqqu in Uncategorized
  • Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta (Contributed by Ummey Hany), Posted on November 20, 2023 by hqqu in Uncategorized
  • Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries (Contributed by Pr Anne Barlier), Posted on November 20, 2023 by hqqu in Uncategorized
  • Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomized phase 3 BALANCE study (Contributed by Drs David G Warnock and Eric L Wallace), Posted on November 10, 2023 by hqqu in Uncategorized
  • Titin copy number variations associated with dominant inherited phenotypes (Contributed by Dr. Aurélien Perrin), Posted on November 8, 2023 by hqqu in Uncategorized
  • Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy (Contributed by Drs. Zhaoxia Wang and Jianying Xi, on behalf of the authors), Posted on November 5, 2023 by hqqu in Uncategorized
  • Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome (Contributed by Professor Timothy J Aitman, on behalf of the authors), Posted on October 12, 2023 by hqqu in Uncategorized
  • Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study (Contributed by Chen Han-Ying), Posted on October 6, 2023 by hqqu in Uncategorized
  • Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature (Contributed by Dr. May Christine V Malicdan), Posted on October 4, 2023 by hqqu in Uncategorized
  • Exploring the Link Between Congenital Vertebral Malformations and Neural Tube Defects (Contributed by Dr Nan Wu), Posted on October 1, 2023 by hqqu in Uncategorized
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