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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 :

  • MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect (Contributed by Drs. Eiríkur Steingrímsson and Valentin Yves Walker), Posted on February 5, 2026 by hqqu in Uncategorized
  • Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings (Contributed by Zehra Manav Yigit, MD), Posted on January 19, 2026 by hqqu in Uncategorized
  • Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies (Contributed by Dr. Lucia N. Moro), Posted on January 1, 2026 by hqqu in Uncategorized
  • Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients (Contributed by Professor Ghada M H Abdel-Salam), Posted on January 1, 2026 by hqqu in Uncategorized
  • Obstetric history of women with m.3243A>G: an observational cohort study (Contributed by Dr. Mika Martikainen), Posted on December 19, 2025 by hqqu in Uncategorized
  • Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta), Posted on December 19, 2025 by hqqu in Uncategorized
  • Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR (Contributed by Dr. Dong Sun), Posted on December 19, 2025 by hqqu in Uncategorized
  • Sequencing every UK newborn: why cold storage economics should shape policy (Contributed by Dr Timothy Hearn), Posted on December 18, 2025 by hqqu in Uncategorized
  • Intragenic loss-of-function variants in transcription factors MAZ, FOXP1, and SIN3B in colobomatous microphthalmia (Contributed by Dr. Elena Semina), Posted on December 9, 2025 by hqqu in Uncategorized
  • ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum (Contributed by Kevin Van Compernolle, on behalf of co-authors Jacques Van Huysse, Kathleen Claes, Ellen Denayer, Marie Bex, and Annick Van den Bruel), Posted on November 27, 2025 by hqqu in Uncategorized
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