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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 :

  • Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid (Contributed by Dr. Christoph Freyer), Posted on June 17, 2015 by hqqu in Uncategorized
  • Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde Pérez), Posted on June 16, 2015 by hqqu in Uncategorized
  • Combined Mineralocorticoid and Glucocorticoid deficiency is caused by a novel founder Nicotinamide Nucleotide Transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress (Contributed by Dr. Ariella Weinberg-Shukron), Posted on June 12, 2015 by hqqu in Uncategorized
  • Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement (Contributed by Dr. Juwon Kim), Posted on June 4, 2015 by hqqu in Uncategorized
  • Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus (Contributed by Janet Buchanan), Posted on June 4, 2015 by hqqu in Uncategorized
  • Streamlining review of research involving humans: Canadian models (Contributed by Ma’n H. Zawati), Posted on June 4, 2015 by hqqu in Uncategorized
  • Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type (Contributed by Dr. med. Malte Spielmann), Posted on June 1, 2015 by hqqu in Uncategorized
  • Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels (Contributed by Dr. Amélie Bonnefond), Posted on May 29, 2015 by hqqu in Uncategorized
  • Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder (Contributed by Dr. Qiuju Wang), Posted on May 18, 2015 by hqqu in Uncategorized
  • A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome (Contributed by Salah Azzi), Posted on May 7, 2015 by hqqu in Uncategorized
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