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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 :

  • Sporadic vestibular schwannoma: a molecular testing summary (Contributed by Katie Sadler), Posted on September 24, 2020 by hqqu in Uncategorized
  • TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents (Contributed by Dr. med. Julien H. Park), Posted on September 24, 2020 by hqqu in Uncategorized
  • Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex (Contributed by Dr Pierre Pfirmann), Posted on September 24, 2020 by hqqu in Uncategorized
  • Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations (Contributed by Dr. San Ming Wang), Posted on September 24, 2020 by hqqu in Uncategorized
  • Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy (Contributed by Dr. Andrea Riccio), Posted on September 17, 2020 by hqqu in Uncategorized
  • De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes (Contributed by Professor Judith Melki), Posted on September 17, 2020 by hqqu in Uncategorized
  • Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies (Contributed by Dr. Jens König), Posted on September 12, 2020 by hqqu in Uncategorized
  • Loss-of-function variants in POT1 predispose to uveal melanoma (Contributed by Vaishnavi Nathan), Posted on September 12, 2020 by hqqu in Uncategorized
  • Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome (Contributed by Dr. Silke Peeters), Posted on September 9, 2020 by hqqu in Uncategorized
  • RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports (Contributed by Dr. Mekki Ahmed), Posted on September 9, 2020 by hqqu in Uncategorized
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