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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 :

  • Heterozygous frameshift CTNNB1 variants identified in familial exudative vitreoretinopathy-affected families reveal the pathogenesis of β-catenin for the disease (Contributed by Dr. Shujin Li), Posted on April 1, 2022 by hqqu in Uncategorized
  • A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon (Contributed by Dr. Helle Høyer), Posted on March 23, 2022 by hqqu in Uncategorized
  • Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome (Contributed by Dr Hagit Daum), Posted on March 14, 2022 by hqqu in Uncategorized
  • Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants (Contributed by Professor Nicoletta Resta), Posted on March 8, 2022 by hqqu in Uncategorized
  • Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome (Contributed by Drs. Veronique Lefebvre and Rebecca Ahrens-Nicklas), Posted on March 4, 2022 by hqqu in Uncategorized
  • Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang), Posted on March 1, 2022 by hqqu in Uncategorized
  • Patient-derived cellular models of primary ciliopathies (Contributed by Dr. Virginie Sottile), Posted on February 20, 2022 by hqqu in Uncategorized
  • Complete loss of the X-linked gene CASK causes severe cerebellar degeneration (Contributed by Dr. Konark Mukherjee), Posted on February 13, 2022 by hqqu in Uncategorized
  • Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer (Contributed by Dr. Lin Xiao), Posted on February 11, 2022 by hqqu in Uncategorized
  • RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders (Contributed by Dr. Congling Dai), Posted on February 9, 2022 by hqqu in Uncategorized
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