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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 :

  • Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis, Posted on August 30, 2021 by hqqu in Uncategorized
  • ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity, Posted on August 9, 2021 by hqqu in Uncategorized
  • Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice, Posted on August 9, 2021 by hqqu in Uncategorized
  • Diagnostic Yield of Chromosomal Microarray and Trio Whole-Exome Sequencing in Cryptogenic Cerebral Palsy, Posted on August 1, 2021 by hqqu in Uncategorized
  • Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS), Posted on August 1, 2021 by hqqu in Uncategorized
  • Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders, Posted on August 1, 2021 by hqqu in Uncategorized
  • O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum, Posted on August 1, 2021 by hqqu in Uncategorized
  • Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series, Posted on July 4, 2021 by hqqu in Uncategorized
  • Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population, Posted on June 27, 2021 by hqqu in Uncategorized
  • Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state, Posted on June 27, 2021 by hqqu in Uncategorized
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