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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 :

  • Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews (Contributed by Dr. Hagar Mor-Shaked), Posted on June 18, 2024 by hqqu in Uncategorized
  • Functional annotation with expression validation identifies novel metastasis-relevant genes from post-GWAS risk loci in sporadic colorectal carcinomas (Contributed by Dr Peh Yean Cheah), Posted on June 18, 2024 by hqqu in Uncategorized
  • Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective (Contributed by Dr Silvestre CUINAT), Posted on June 9, 2024 by hqqu in Uncategorized
  • Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers (Contributed by Dr Xin Yang), Posted on June 5, 2024 by hqqu in Uncategorized
  • Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene (Contributed by Steven Smeijers, MD), Posted on June 4, 2024 by hqqu in Uncategorized
  • ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death (Contributed by Jing Yang), Posted on June 4, 2024 by hqqu in Uncategorized
  • Variant classification changes over time in the clinical molecular diagnostic laboratory setting (Contributed by Elan Hahn), Posted on May 29, 2024 by hqqu in Uncategorized
  • An expanded targeted preconception screening panel in Israel – findings and insights (Contributed by Hagit Baris Feldman, M.D.), Posted on May 8, 2024 by hqqu in Uncategorized
  • Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression (Contributed by Betiana M. Ziegler, Claudia P. Radic and Carlos D. De Brasi in behalf of authors), Posted on May 8, 2024 by hqqu in Uncategorized
  • Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein (Contributed by Dr Konark Mukherjee), Posted on April 27, 2024 by hqqu in Uncategorized
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