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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 :

  • Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins, Posted on November 26, 2015 by hqqu in Uncategorized
  • Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family, Posted on November 14, 2015 by hqqu in Uncategorized
  • Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome, Posted on November 7, 2015 by hqqu in Uncategorized
  • UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN, Posted on November 7, 2015 by hqqu in Uncategorized
  • Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome, Posted on November 6, 2015 by hqqu in Uncategorized
  • Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families, Posted on November 3, 2015 by hqqu in Uncategorized
  • A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement, Posted on October 26, 2015 by hqqu in Uncategorized
  • MKS1 regulates ciliary INPP5E levels in Joubert syndrome, Posted on October 22, 2015 by hqqu in Uncategorized
  • High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome, Posted on October 16, 2015 by hqqu in Uncategorized
  • HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome, Posted on September 30, 2015 by hqqu in Uncategorized
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