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About:hqqu

Profile
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 :

  • Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans (Contributed by Dr Nicolas Chassaing), Posted on July 5, 2022 by hqqu in Uncategorized
  • A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain), Posted on July 4, 2022 by hqqu in Uncategorized
  • Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach (Contributed by Prof. Colin A. Johnson), Posted on June 28, 2022 by hqqu in Uncategorized
  • Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations (Contributed by Dr Pauline LE TANNO), Posted on June 15, 2022 by hqqu in Uncategorized
  • Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants (Contributed by Dr. Desjardins Clément), Posted on June 15, 2022 by hqqu in Uncategorized
  • Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency (Contributed by Dr. Barbara Plecko), Posted on June 15, 2022 by hqqu in Uncategorized
  • Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway (Contributed by Professor Aijun Sun), Posted on June 15, 2022 by hqqu in Uncategorized
  • The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness (Contributed by Professor David Hessl), Posted on June 15, 2022 by hqqu in Uncategorized
  • Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study (Contributed by Dr. Mollie Barnard), Posted on May 14, 2022 by hqqu in Uncategorized
  • ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia (Contributed by Professor Yifeng Wang), Posted on May 14, 2022 by hqqu in Uncategorized
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