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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 :

  • 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
  • Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing, Posted on January 29, 2015 by hqqu in Uncategorized
  • DCAF4, a novel gene associated with leucocyte telomere length (Contributed by Dr. Massimo Mangino), Posted on January 27, 2015 by hqqu in Uncategorized
  • MuSK – a novel gene for fetal death (Contributed by Dr. Maria Wilbe), Posted on January 23, 2015 by hqqu in Uncategorized
  • Mutation in RNF113A that shines a new light on trichothiodystrophy (Contributed by Dr. Mark Corbett), Posted on January 22, 2015 by hqqu in Uncategorized
  • Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1 (Contributed by Dr. David Stevenson), Posted on January 22, 2015 by hqqu in Uncategorized
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