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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 :

  • Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices (Contributed by Emma Tudini), Posted on January 7, 2023 by hqqu in Uncategorized
  • Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation (Contributed by Prof. Evans Gareth), Posted on January 5, 2023 by hqqu in Uncategorized
  • Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA (Contributed by Prof. Feng Zhang), Posted on January 5, 2023 by hqqu in Uncategorized
  • A new platform for RNA-based diagnosis of cancer predisposition syndromes (Contributed by Dr. med. Dieter Wolf), Posted on January 5, 2023 by hqqu in Uncategorized
  • 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
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