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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 :

  • 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
  • Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy (Contributed by Dr. rer. nat. Malte Lenders), Posted on April 30, 2019 by hqqu in Uncategorized
  • Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development (Contributed by Dr. Katie Ayers), Posted on April 30, 2019 by hqqu in Uncategorized
  • A novel mutation in the GFAP gene expands the phenotype of Alexander disease (Contributed by Dr. Edgard Verdura), Posted on April 22, 2019 by hqqu in Uncategorized
  • Multivariate genome-wide association study of rapid automatized naming and rapid alternating stimulus in Hispanic American and African American youth (Contributed by Dr. Jeffrey R. Gruen), Posted on April 22, 2019 by hqqu in Uncategorized
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