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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 :

  • Titin copy number variations associated with dominant inherited phenotypes (Contributed by Dr. Aurélien Perrin), Posted on November 8, 2023 by hqqu in Uncategorized
  • Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy (Contributed by Drs. Zhaoxia Wang and Jianying Xi, on behalf of the authors), Posted on November 5, 2023 by hqqu in Uncategorized
  • Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome (Contributed by Professor Timothy J Aitman, on behalf of the authors), Posted on October 12, 2023 by hqqu in Uncategorized
  • Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study (Contributed by Chen Han-Ying), Posted on October 6, 2023 by hqqu in Uncategorized
  • Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature (Contributed by Dr. May Christine V Malicdan), Posted on October 4, 2023 by hqqu in Uncategorized
  • Exploring the Link Between Congenital Vertebral Malformations and Neural Tube Defects (Contributed by Dr Nan Wu), Posted on October 1, 2023 by hqqu in Uncategorized
  • Carriers of autosomal recessive conditions: are they really ‘unaffected?’ (Contributed by Drs. Justine Keathley and Amber Hames), Posted on October 1, 2023 by hqqu in Uncategorized
  • Recessive MECR pathogenic variants cause a LHON-like optic neuropathy (Contributed by Dr. Claudio Fiorini), Posted on September 22, 2023 by hqqu in Uncategorized
  • Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review (Contributed by Liz Terhune, MS), Posted on September 13, 2023 by hqqu in Uncategorized
  • HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element (Contributed by Tao Jiang), Posted on September 2, 2023 by hqqu in Uncategorized
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