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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 :

  • Six at Sixty. ‘No gain, no pain’: medical genetics taking Nav1.7 from target to pharmacy (Contributed by Pu Xia), Posted on September 17, 2025 by hqqu in Uncategorized
  • Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement (Contributed by Fulvio D’Abrusco), Posted on September 17, 2025 by hqqu in Uncategorized
  • Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification (Contributed by Dr Tamar Harel), Posted on September 10, 2025 by hqqu in Uncategorized
  • Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with Parkinsonism (Contributed by Dr. Carme Fons), Posted on September 10, 2025 by hqqu in Uncategorized
  • Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia (Contributed by Ms. Jeanette Yuen), Posted on September 10, 2025 by hqqu in Uncategorized
  • Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes (Contributed by Dr. Schaida Schirwani), Posted on September 10, 2025 by hqqu in Uncategorized
  • Long-term efficacy of migalastat in females with Fabry disease (Contributed by Dr. Staci Kallish), Posted on September 10, 2025 by hqqu in Uncategorized
  • APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites [Contributed by Laura Valle (also on behalf of Clare Turnbull)], Posted on September 2, 2025 by hqqu in Uncategorized
  • Resolving structural variations missed by short-read sequencing uncovers their pathogenicity (Contributed by Pr Caroline Schluth-Bolard), Posted on August 26, 2025 by hqqu in Uncategorized
  • Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort (Contributed by Dr. Agnès Desroches-Castan), Posted on August 20, 2025 by hqqu in Uncategorized
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