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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 :

  • Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank (Contributed by Eilidh Fummey), Posted on January 14, 2025 by hqqu in Uncategorized
  • Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho), Posted on January 14, 2025 by hqqu in Uncategorized
  • Li-Fraumeni Syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript (Contributed by Dr Gaëlle Bougeard-Denoyelle), Posted on January 12, 2025 by hqqu in Uncategorized
  • Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries (Contributed by Eric Lee), Posted on January 3, 2025 by hqqu in Uncategorized
  • Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome (Contributed by Dr Nicholas A Borja), Posted on January 3, 2025 by hqqu in Uncategorized
  • Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers (Contributed by Xavier Llor, MD, PhD), Posted on December 16, 2024 by hqqu in Uncategorized
  • Foecal incontinence disorders in Wolfram syndrome: a new manifestation (Contributed by Dr. C. ORSSAUD), Posted on December 16, 2024 by hqqu in Uncategorized
  • KIF21-associated peripheral neuropathy defined by impaired binding with TUBB3 (Contributed by Nicholas A. Borja, M.D.), Posted on December 9, 2024 by hqqu in Uncategorized
  • National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy (Contributed by Dr. Davide Mei), Posted on December 2, 2024 by hqqu in Uncategorized
  • Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study (Contributed by Drs. Feng-Juan Gao, Mo-Ying Wang, and Xin Huang), Posted on November 12, 2024 by hqqu in Uncategorized
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