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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 :

  • Charcot–Marie–Tooth diseases: an update and some new proposals for the classification, Posted on August 5, 2015 by hqqu in Uncategorized
  • Mutations in COQ4, an Essential Component of Coenzyme Q Biosynthesis, Cause Lethal Neonatal Mitochondrial Encephalomyopathy, Posted on July 16, 2015 by hqqu in Uncategorized
  • Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans, Posted on July 3, 2015 by hqqu in Uncategorized
  • A CASQ1 founder mutation in 3 Italian families with protein aggregate myopathy and hyperCKaemia, Posted on July 1, 2015 by hqqu in Uncategorized
  • Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism, Posted on June 22, 2015 by hqqu in Uncategorized
  • Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid, Posted on June 17, 2015 by hqqu in Uncategorized
  • Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families, Posted on June 16, 2015 by hqqu in Uncategorized
  • Combined Mineralocorticoid and Glucocorticoid deficiency is caused by a novel founder Nicotinamide Nucleotide Transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress, Posted on June 12, 2015 by hqqu in Uncategorized
  • Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement, Posted on June 4, 2015 by hqqu in Uncategorized
  • Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus, Posted on June 4, 2015 by hqqu in Uncategorized
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