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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 :

  • 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
  • Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis (Contributed by Dr. Wei-Sha Luan), Posted on August 1, 2020 by hqqu in Uncategorized
  • Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms (Contributed by Dr. Xue Gao), Posted on August 1, 2020 by hqqu in Uncategorized
  • Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy (Contributed by Adam Waring), Posted on August 1, 2020 by hqqu in Uncategorized
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