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About:hqqu

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Huiqi Qu’s research interest is the genetics and functional genomics of human complex diseases (e.g. tuberculosis, obesity, and diabetes). He is working on the genetics and functional genomics of tuberculosis and diabetes. By integrating proteomics, genomics, and GWAS study, they are trying to clarify the molecular mechanisms of tuberculosis susceptibility, and develop genetic markers for diabetes risk prediction.

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, 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, Posted on March 6, 2015 by hqqu in Uncategorized
  • Bilateral vestibular schwannomas in older patients: NF2 or chance?, Posted on February 27, 2015 by hqqu in Uncategorized
  • A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype, Posted on February 17, 2015 by hqqu in Uncategorized
  • BRCA1 Circos: a visualisation resource for functional analysis of missense variants, 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, Posted on January 27, 2015 by hqqu in Uncategorized
  • MuSK – a novel gene for fetal death, Posted on January 23, 2015 by hqqu in Uncategorized
  • Mutation in RNF113A that shines a new light on trichothiodystrophy, Posted on January 22, 2015 by hqqu in Uncategorized
  • Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1, Posted on January 22, 2015 by hqqu in Uncategorized
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