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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 :

  • Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria (Contributed by Dr. Xavier Llor), Posted on July 17, 2019 by hqqu in Uncategorized
  • Genetic characteristics of retinitis pigmentosa in 1,204 Japanese patients (Contributed by Dr. Yoshito Koyanagi), Posted on June 23, 2019 by hqqu in Uncategorized
  • Familial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers), Posted on June 10, 2019 by hqqu in Uncategorized
  • Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis (Contributed by Dr. Brooke Sadler), Posted on June 9, 2019 by hqqu in Uncategorized
  • Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications (Contributed by Dr. Lisa Ewans), Posted on May 25, 2019 by hqqu in Uncategorized
  • Gastric cancer in Lynch syndrome is associated with underlying immune gastritis (Contributed by Dr. Daniel Chung), Posted on May 8, 2019 by hqqu in Uncategorized
  • Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility (Contributed by Dr. Feng Zhang), Posted on May 8, 2019 by hqqu in Uncategorized
  • Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era (Contributed by Kyra Stuurman), Posted on May 8, 2019 by hqqu in Uncategorized
  • Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis (Contributed by Drs. Shiro Ikegawa and Nao Otomo), Posted on April 30, 2019 by hqqu in Uncategorized
  • Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facio-scapulo-humeral dystrophy (Contributed by Dr. Frederique Magdinier), Posted on April 30, 2019 by hqqu in Uncategorized
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