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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 :

  • 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
  • First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked (Contributed by Clément JANOT, Biologiste, PharmD, PhD student), Posted on August 20, 2025 by hqqu in Uncategorized
  • Homologous recombination deficiency in unselected high-grade ovarian carcinoma (Contributed by Dr Robert D Morgan), Posted on August 14, 2025 by hqqu in Uncategorized
  • New patients with duplication of the pituitary gland–plus syndrome, including a PTCH2 variant and a literature review (Contributed by Dr Duangrurdee Wattanasirichaigoon), Posted on August 14, 2025 by hqqu in Uncategorized
  • Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort (Contributed by Jackie Cappadocia, MS, LCGC), Posted on August 14, 2025 by hqqu in Uncategorized
  • Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants (Contributed by Professor Eric Pasmant), Posted on August 14, 2025 by hqqu in Uncategorized
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