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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 :

  • Loss-of-function variants in POT1 predispose to uveal melanoma (Contributed by Vaishnavi Nathan), Posted on September 12, 2020 by hqqu in Uncategorized
  • Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome (Contributed by Dr. Silke Peeters), Posted on September 9, 2020 by hqqu in Uncategorized
  • RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports (Contributed by Dr. Mekki Ahmed), Posted on September 9, 2020 by hqqu in Uncategorized
  • A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function (Contributed by Dr. Mythily Ganapathi and Dr. Volkan Okur), Posted on August 26, 2020 by hqqu in Uncategorized
  • Determinants of quality of life in Rett syndrome: new findings on associations with genotype (Contributed by Prof Jenny Downs), Posted on August 26, 2020 by hqqu in Uncategorized
  • Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi), Posted on August 26, 2020 by hqqu in Uncategorized
  • Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment (Contributed by Dr. Pingping Song), Posted on August 21, 2020 by hqqu in Uncategorized
  • Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population (Contributed by Dr. San Ming Wang), Posted on August 18, 2020 by hqqu in Uncategorized
  • Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Gaël Manes), Posted on August 18, 2020 by hqqu in Uncategorized
  • Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy (Contributed by Dr Eva Trevisson), Posted on August 5, 2020 by hqqu in Uncategorized
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