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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 :

  • Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences (Contributed by Dr. Weimin Bi), Posted on January 13, 2023 by hqqu in Uncategorized
  • Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes (Contributed by Prof. Derralynn Hughes), Posted on January 13, 2023 by hqqu in Uncategorized
  • FXN gene methylation determines carrier status in Friedreich ataxia (Contributed by Dr. Sanjay I. Bidichandani), Posted on January 13, 2023 by hqqu in Uncategorized
  • Clinical and genetic features of GATOR1 complex-associated epilepsy (Contributed by Dr. Qing Liu), Posted on January 7, 2023 by hqqu in Uncategorized
  • 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
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