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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 :

  • MET variant and human hearing loss (Contributed by Dr. Sadaf Naz), Posted on May 4, 2015 by hqqu in Uncategorized
  • A germline mutation in PBRM1 predisposes to renal cell carcinoma (Contributed by Patrick R Benusiglio), Posted on April 24, 2015 by hqqu in Uncategorized
  • Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer (Contributed by Dr. José Luis Soto), Posted on April 23, 2015 by hqqu in Uncategorized
  • Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations (Contributed by Marina Wang), Posted on April 22, 2015 by hqqu in Uncategorized
  • Loss-of-function de novo mutations play an important role in severe human neural tube defects (Contributed by Philippe Lemay), Posted on March 24, 2015 by hqqu in Uncategorized
  • Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (Contributed by Elena Parrini), Posted on March 10, 2015 by hqqu in Uncategorized
  • A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B (Contributed by Dr. Fowzan S Alkuraya), Posted on March 6, 2015 by hqqu in Uncategorized
  • Bilateral vestibular schwannomas in older patients: NF2 or chance? (Contributed by Prof. D Gareth Evans), Posted on February 27, 2015 by hqqu in Uncategorized
  • A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype (Contributed by Nancy Hamel), Posted on February 17, 2015 by hqqu in Uncategorized
  • BRCA1 Circos: a visualisation resource for functional analysis of missense variants (Contributed by Dr. Alvaro N. Monteiro), Posted on February 2, 2015 by hqqu in Uncategorized
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