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About:hqqu

Profile
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 :

  • The cerebellum and embodied semantics: Evidence from a case of genetic ataxia due to STUB1 mutations (Contributed by Dr. Agustín Ibáñez), Posted on November 3, 2016 by hqqu in Uncategorized
  • AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis (Contributed by Dr. Rodney Gilbert), Posted on November 3, 2016 by hqqu in Uncategorized
  • ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism (Contributed by Dr. Sacha Ferdinandusse), Posted on October 31, 2016 by hqqu in Uncategorized
  • A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy (Contributed by Dr. Shinichi Hirose), Posted on October 28, 2016 by hqqu in Uncategorized
  • Impact of subsidies on cancer genetic testing uptake in Singapore (Contributed by Ms. Jeanette Yuen), Posted on October 27, 2016 by hqqu in Uncategorized
  • Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene (Contributed by Dr. Meena Balasubramanian), Posted on October 13, 2016 by hqqu in Uncategorized
  • Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles (Contributed by Dr. Vito Terlizzi), Posted on October 13, 2016 by hqqu in Uncategorized
  • A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia, and alacrima (Contributed by Dr. Katrin Köhler), Posted on October 5, 2016 by hqqu in Uncategorized
  • CEP78 is mutated in a distinct type of Usher syndrome (Contributed by Dr. Rui Chen), Posted on September 21, 2016 by hqqu in Uncategorized
  • Common cancers share familial susceptibility: Implications for cancer genetics and counseling (Contributed by Dr. Hongyao Yu), Posted on September 20, 2016 by hqqu in Uncategorized
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