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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 :

  • Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)? (Contributed by Dr Philip Harraka), Posted on August 3, 2024 by hqqu in Uncategorized
  • Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder (Contributed by Dr. Valentina Cetica), Posted on August 1, 2024 by hqqu in Uncategorized
  • Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30–39 over grade 3 aged 40–49 years? (Contributed by Professor D Gareth Evans), Posted on July 26, 2024 by hqqu in Uncategorized
  • IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures (Contributed by Dr Na He), Posted on July 5, 2024 by hqqu in Uncategorized
  • Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome (Contributed by Dr. Irene Valenzuela Palafoll), Posted on July 3, 2024 by hqqu in Uncategorized
  • Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome (Contributed by Dr. Takeshi Yoshida), Posted on July 3, 2024 by hqqu in Uncategorized
  • Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis (Contributed by MSc Johana Kopčilová), Posted on July 3, 2024 by hqqu in Uncategorized
  • NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study (Contributed by Professor D Gareth Evans), Posted on June 27, 2024 by hqqu in Uncategorized
  • 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
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