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About:hqqu

Profile
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 :

  • Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population (Contributed by Dr. San Ming Wang), Posted on August 18, 2020 by hqqu in Uncategorized
  • Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Gaël Manes), Posted on August 18, 2020 by hqqu in Uncategorized
  • Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy (Contributed by Dr Eva Trevisson), Posted on August 5, 2020 by hqqu in Uncategorized
  • Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis (Contributed by Dr. Wei-Sha Luan), Posted on August 1, 2020 by hqqu in Uncategorized
  • Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms (Contributed by Dr. Xue Gao), Posted on August 1, 2020 by hqqu in Uncategorized
  • Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy (Contributed by Adam Waring), Posted on August 1, 2020 by hqqu in Uncategorized
  • Prenatal clinical manifestations in individuals with COL4A1/2 variants (Contributed by Dr. Satoko Miyatake), Posted on August 1, 2020 by hqqu in Uncategorized
  • Comprehensive characteristics of somatic mutations in the normal tissues of patients with cancer and existence of somatic mutant clones linked to cancer development (Contributed by Dr. Chang Ohk Sung), Posted on July 27, 2020 by hqqu in Uncategorized
  • Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants (Contributed by Dr. Regie Lyn Santos-Cortez), Posted on July 25, 2020 by hqqu in Uncategorized
  • A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss (Contributed by Suzanne de Bruijn), Posted on July 7, 2020 by hqqu in Uncategorized
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