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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 :

  • 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
  • Adaptive Nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication (Contributed by Dr Mathilde Filser), Posted on September 2, 2023 by hqqu in Uncategorized
  • Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant (Contributed by María Justel), Posted on September 2, 2023 by hqqu in Uncategorized
  • Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation (Contributed by Dr. Zhengwei Yuan), Posted on September 2, 2023 by hqqu in Uncategorized
  • TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall), Posted on September 2, 2023 by hqqu in Uncategorized
  • Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer (Contributed by Dr. Sara Fernández-Castillejo), Posted on August 18, 2023 by hqqu in Uncategorized
  • Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature (Contributed by Dr. Francesca Peluso), Posted on August 18, 2023 by hqqu in Uncategorized
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