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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 :

  • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?, Posted on December 23, 2018 by hqqu in Uncategorized
  • MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome, Posted on December 23, 2018 by hqqu in Uncategorized
  • Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis, Posted on December 23, 2018 by hqqu in Uncategorized
  • Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning, Posted on December 23, 2018 by hqqu in Uncategorized
  • Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data, Posted on December 7, 2018 by hqqu in Uncategorized
  • Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer, Posted on November 24, 2018 by hqqu in Uncategorized
  • Mapping of breakpoints in balanced chromosomal translocations by shallow whole genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders, Posted on November 21, 2018 by hqqu in Uncategorized
  • Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome of unknown etiology, Posted on November 21, 2018 by hqqu in Uncategorized
  • Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect, Posted on November 21, 2018 by hqqu in Uncategorized
  • Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment, Posted on November 21, 2018 by hqqu in Uncategorized
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