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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 somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome (Contributed by Dr. Leslie B. Gordon), Posted on December 5, 2016 by hqqu in Uncategorized
  • The importance of dynamic re-analysis in diagnostic whole exome sequencing (Contributed by Dr. Anna Need), Posted on November 29, 2016 by hqqu in Uncategorized
  • Diagnostic value of exome and whole genome sequencing in craniosynostosis (Contributed by Dr. Kerry Miller), Posted on November 24, 2016 by hqqu in Uncategorized
  • Hypersuccinylacetonemia and normal liver function in maleylacetoacetate isomerase deficiency (Contributed by Dr. Grant Mitchell), Posted on November 22, 2016 by hqqu in Uncategorized
  • Anxiety delivered Direct-to-Consumer: are we asking the right questions about the impacts of DTC genetic testing? (Contributed by Dr. Serena Oliveri), Posted on November 10, 2016 by hqqu in Uncategorized
  • Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study (Contributed by Dr. Christopher Viereck), Posted on November 10, 2016 by hqqu in Uncategorized
  • The UCL Low-Density Lipoprotein Receptor Gene Variant Database: Pathogenicity Update (Contributed by Dr. Sarah Leigh), Posted on November 7, 2016 by hqqu in Uncategorized
  • 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
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