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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 :

  • Natural history of renal tumours in von Hippel-Lindau disease: A large retrospective study of Chinese patients (Contributed by Dr. Kan Gong), Posted on February 12, 2019 by hqqu in Uncategorized
  • The Contribution of Spurious Transcription to Intellectual Disability Disorders (Contributed by Dr. Angel Barco), Posted on February 12, 2019 by hqqu in Uncategorized
  • Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC) (Contributed by Dr. Udo Rudloff), Posted on February 12, 2019 by hqqu in Uncategorized
  • Diagnosis of ‘possible’ mitochondrial disease: an existential crisis (Contributed by Dr. Sumit Parikh), Posted on January 27, 2019 by hqqu in Uncategorized
  • Clinical spectrum and pleiotropic nature of CDH1 germline mutations (Contributed by Dr. Joana Figueiredo and Professor Raquel Seruca), Posted on January 20, 2019 by hqqu in Uncategorized
  • Longitudinal evaluation of SMN levels as biomarker for Spinal Muscular Atrophy Molecular: results of a phase-IIb double-blind study of salbutamol (Contributed by Dr. F. Danilo Tiziano), Posted on December 31, 2018 by hqqu in Uncategorized
  • MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts), Posted on December 23, 2018 by hqqu in Uncategorized
  • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? (Contributed by Agostina Stradella and Dr. Conxi Lazaro), Posted on December 23, 2018 by hqqu in Uncategorized
  • MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato), Posted on December 23, 2018 by hqqu in Uncategorized
  • Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis (Contributed by Dr. Qingjiong Zhang), Posted on December 23, 2018 by hqqu in Uncategorized
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