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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 :

  • Diagnostic value of exome and whole genome sequencing in craniosynostosis (Contributed by Dr Kerry Miller), Posted on December 14, 2016 by hqqu in Uncategorized
  • Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix (Contributed by Dr. Khadim Shah), Posted on December 13, 2016 by hqqu in Uncategorized
  • Genome-wide association study identifies variants in HORMAD2 associated with tonsillectomy (Contributed by Dr. Bjarke Feenstra), Posted on December 9, 2016 by hqqu in Uncategorized
  • 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
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