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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 :

  • Complex I deficiency: clinical features, biochemistry and molecular genetics (Contributed by Shamima Rahman FRCP FRCPCH PhD), Posted on September 12, 2012 by hqqu in Uncategorized
  • Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency (Contributed by R.W. Taylor PhD, DSc, FRCPath), Posted on September 12, 2012 by hqqu in Uncategorized
  • Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma (Contributed by Xuejun Zhang M.D. Ph.D.), Posted on September 12, 2012 by hqqu in Uncategorized
  • Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation (Contributed by Dr. Tohru Yorifuji), Posted on September 7, 2012 by hqqu in Uncategorized
  • Quantitative trait locus analysis for next-generation sequencing with the functional linear models (Contributed by Dr. Momiao Xiong), Posted on August 13, 2012 by hqqu in Uncategorized
  • Neurofibromatosis type 1: from genotype to phenotype (Contributed by Dr. Eric Pasmant), Posted on August 13, 2012 by hqqu in Uncategorized
  • A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? (Contributed by Dr. AM Rozendaal), Posted on August 13, 2012 by hqqu in Uncategorized
  • Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature (Contributed by Prof. Thomas Eggermann), Posted on July 26, 2012 by hqqu in Uncategorized
  • Submit your paper to the Journal of Medical Genetics today!, Posted on July 18, 2012 by hqqu in Uncategorized
  • Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer (Contributed by Karen Heath, PhD), Posted on July 11, 2012 by hqqu in Uncategorized
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