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About:hqqu

Profile
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 :

  • Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway, Posted on June 15, 2022 by hqqu in Uncategorized
  • The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness, Posted on June 15, 2022 by hqqu in Uncategorized
  • Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study, Posted on May 14, 2022 by hqqu in Uncategorized
  • ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia, Posted on May 14, 2022 by hqqu in Uncategorized
  • Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing, Posted on April 15, 2022 by hqqu in Uncategorized
  • Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum, Posted on April 15, 2022 by hqqu in Uncategorized
  • Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases, Posted on April 15, 2022 by hqqu in Uncategorized
  • Bi-allelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia, Posted on April 15, 2022 by hqqu in Uncategorized
  • Heterozygous frameshift CTNNB1 variants identified in familial exudative vitreoretinopathy-affected families reveal the pathogenesis of β-catenin for the disease, Posted on April 1, 2022 by hqqu in Uncategorized
  • A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon, Posted on March 23, 2022 by hqqu in Uncategorized
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Latest Journal Content

Review

Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

21 July 2022open access logo

Diagnostics

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

21 July 2022open access logo

Diagnostics

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victorias Undiagnosed Diseases Program

21 July 2022

Neurogenetics

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy

21 July 2022

Genotype-phenotype correlations

Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes

21 July 2022

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