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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 :

  • Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with Multiple Lentigines, Posted on September 2, 2015 by hqqu in Uncategorized
  • Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity, Posted on August 21, 2015 by hqqu in Uncategorized
  • Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure, Posted on August 21, 2015 by hqqu in Uncategorized
  • Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers, Posted on August 21, 2015 by hqqu in Uncategorized
  • A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life, Posted on August 21, 2015 by hqqu in Uncategorized
  • Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients, Posted on August 14, 2015 by hqqu in Uncategorized
  • IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype, Posted on August 14, 2015 by hqqu in Uncategorized
  • Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients, Posted on August 12, 2015 by hqqu in Uncategorized
  • WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome, Posted on August 11, 2015 by hqqu in Uncategorized
  • Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses, Posted on August 5, 2015 by hqqu in Uncategorized
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