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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 :

  • Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature (Contributed by Dr. Francesca Peluso), Posted on August 18, 2023 by hqqu in Uncategorized
  • Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients (Contributed by Dr. Wenjuan Qiu), Posted on August 18, 2023 by hqqu in Uncategorized
  • Clinical, genetic and biochemical signatures of RBP4-related ocular malformations (Contributed by Bertrand Chesneau), Posted on August 18, 2023 by hqqu in Uncategorized
  • Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project (Contributed by A Rachel Moore), Posted on August 10, 2023 by hqqu in Uncategorized
  • Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall), Posted on August 7, 2023 by hqqu in Uncategorized
  • CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources (Contributed by Dr. Cristina Fortuno), Posted on August 7, 2023 by hqqu in Uncategorized
  • Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes (Contributed by Giovana Tardin Torrezan, PhD), Posted on August 7, 2023 by hqqu in Uncategorized
  • Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders (Contributed by Kevin Riquin), Posted on July 27, 2023 by hqqu in Uncategorized
  • Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome (Contributed by Professor Jie-Wei Luo), Posted on July 20, 2023 by hqqu in Uncategorized
  • Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes (Contributed by Dr. Catherine Goudie), Posted on July 17, 2023 by hqqu in Uncategorized
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