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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 :

  • Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach, Posted on November 13, 2019 by hqqu in Uncategorized
  • Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest, Posted on November 13, 2019 by hqqu in Uncategorized
  • Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing, Posted on November 5, 2019 by hqqu in Uncategorized
  • Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end, Posted on October 8, 2019 by hqqu in Uncategorized
  • Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia, Posted on October 8, 2019 by hqqu in Uncategorized
  • Increasing knowledge in IGF1R defects: lessons from 35 new patients, Posted on October 8, 2019 by hqqu in Uncategorized
  • Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency, Posted on September 25, 2019 by hqqu in Uncategorized
  • Biallelic Mutations in CFAP65 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice, Posted on September 25, 2019 by hqqu in Uncategorized
  • Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy, Posted on September 25, 2019 by hqqu in Uncategorized
  • Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status, Posted on September 25, 2019 by hqqu in Uncategorized
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