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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 :

  • De novo variants in KCNJ3 are associated with early-onset epilepsy (Contributed by Dr Lili Long), Posted on June 18, 2024 by hqqu in Uncategorized
  • Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy (Contributed by Dr. Ling Xu), Posted on June 18, 2024 by hqqu in Uncategorized
  • 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
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