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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 :

  • 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
  • WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females (Contributed by Dr. Chihiro Abe-Hatano), Posted on October 29, 2024 by hqqu in Uncategorized
  • Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study (Contributed by Dr. Catherine Huntley), Posted on October 22, 2024 by hqqu in Uncategorized
  • Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank (Contributed by Dr. Pål Møller, on behalf of the authors), Posted on October 8, 2024 by hqqu in Uncategorized
  • UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression (Contributed by Dr. Ting Chen), Posted on October 8, 2024 by hqqu in Uncategorized
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