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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 :

  • 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
  • Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors), Posted on February 4, 2022 by hqqu in Uncategorized
  • Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants (Contributed by Dr Xavier Llor), Posted on January 25, 2022 by hqqu in Uncategorized
  • Long term dormancy in a BRCA1 heterozygote (Contributed by Drs. Setor Amuzu, Lili Fu, and William D Foulkes), Posted on January 17, 2022 by hqqu in Uncategorized
  • CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome (Contributed by Dr. Giovanni Corso), Posted on December 26, 2021 by hqqu in Uncategorized
  • Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants (Contributed by Dr. Clément Desjardins), Posted on December 26, 2021 by hqqu in Uncategorized
  • Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles (Contributed by Dr Alal Eran), Posted on December 21, 2021 by hqqu in Uncategorized
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