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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 :

  • Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele (Contributed by Dr. Uppala Radhakrishna), Posted on April 12, 2012 by hqqu in Uncategorized
  • Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome (Contributed by Dr. Zi-Jiang Chen), Posted on April 12, 2012 by hqqu in Uncategorized
  • Keratinocytic epidermal nevi are associated with mosaic RAS mutations (Contributed by Dr. Francisco X Real), Posted on April 12, 2012 by hqqu in Uncategorized
  • Correlation of tumor BRAF mutations and MLH1 methylation with germline MMR gene mutation status: a literature review assessing utility of tumor features for MMR variant classification (Contributed by Dr Amanda B Spurdle), Posted on March 5, 2012 by hqqu in Uncategorized
  • Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease (Contributed by Dr Derralynn A Hughes), Posted on March 5, 2012 by hqqu in Uncategorized
  • CDKN2A is the main susceptibility gene in Italian pancreatic cancer families (Contributed by Dr Paola Ghiorzo), Posted on March 5, 2012 by hqqu in Uncategorized
  • Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures (Contributed by Ruxandra Bachmann-Gagescu), Posted on March 5, 2012 by hqqu in Uncategorized
  • The phenotypic spectrum of the SMAD3-related Aneurysms-Osteoarthritis Syndrome (AOS) (Contributed by Ingrid van de Laar, MD), Posted on March 5, 2012 by hqqu in Uncategorized
  • The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain (Contributed by Paolo Peterlongo, IFOM), Posted on March 5, 2012 by hqqu in Uncategorized
  • Mutations in the Mitochondrial Complex I Assembly Factor NDUFAF1 Cause Fatal Infantile Hypertrophic Cardiomyopathy (Contributed by Elisa Fassone), Posted on March 5, 2012 by hqqu in Uncategorized
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