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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 :

  • Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling (Contributed by Prof. Rossella Tupler), Posted on January 4, 2012 by hqqu in Uncategorized
  • Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression (Contributed by Dr. Qing Liu), Posted on December 30, 2011 by hqqu in Uncategorized
  • Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy (Contributed by Andoni Echaniz-Laguna), Posted on December 20, 2011 by hqqu in Uncategorized
  • A bias-reducing pathway enrichment analysis of genome-wide association data confirmed association of the MHC region with schizophrenia (Contributed by Zhongming Zhao, Ph.D.), Posted on December 20, 2011 by hqqu in Uncategorized
  • A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta), Posted on December 3, 2011 by hqqu in Uncategorized
  • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study (Contributed by Dr Maria Bitner-Glindzicz), Posted on December 1, 2011 by hqqu in Uncategorized
  • Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis (Contributed by Professor Ying Liu), Posted on November 30, 2011 by hqqu in Uncategorized
  • Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation (Contributed by Dr. Fowzan S Alkuraya), Posted on November 27, 2011 by hqqu in Uncategorized
  • Defective NDUFA9 as a novel cause of neonatally fatal complex I disease (Contributed by Bianca J.C. van den Bosch, PhD), Posted on November 23, 2011 by hqqu in Uncategorized
  • Neonatal onset Autosomal Dominant Polycystic Kidney Disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy (Contributed by Dr. Dorien Peters), Posted on November 23, 2011 by hqqu in Uncategorized
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