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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 :

  • ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favorable outcomes (Contributed by Prof. Yong-Hong Yi), Posted on March 21, 2024 by hqqu in Uncategorized
  • Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith), Posted on March 11, 2024 by hqqu in Uncategorized
  • Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service (Contributed by Dr. Jade Howard), Posted on March 11, 2024 by hqqu in Uncategorized
  • Dissecting Genetic Architecture of Rare Dystonia: Genetic, Molecular and Clinical Insights (Contributed by Dr Ebba Lohmann), Posted on March 11, 2024 by hqqu in Uncategorized
  • Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans (Contributed by Dr. Rui Guo), Posted on February 11, 2024 by hqqu in Uncategorized
  • Molecular Diagnosis, Clinical Evaluation, and Phenotypic Spectrum of Townes-Brocks Syndrome: Insights from a large Chinese hearing loss Cohort (Contributed by Dr Jing Cheng), Posted on February 1, 2024 by hqqu in Uncategorized
  • Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus (Contributed by Liheng Chen), Posted on February 1, 2024 by hqqu in Uncategorized
  • Variant Reclassification and Clinical Ramifications (Contributed by Dr Nicola Walsh), Posted on February 1, 2024 by hqqu in Uncategorized
  • BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome (Contributed by Professor Alex N Bullock and Professor Andrew O M Wilkie), Posted on February 1, 2024 by hqqu in Uncategorized
  • Expanding the phenotype of Kleefstra syndrome: speech, language, and cognition in 103 individuals [Contributed by Lottie Morison MSpPath, BA, BSc, GCertMHSc, CPSP (she/her)], Posted on January 31, 2024 by hqqu in Uncategorized
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