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About:hqqu

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Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.

Posts by hqqu :

  • Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing (Contributed by Professor Ian Campbell), Posted on April 15, 2022 by hqqu in Uncategorized
  • Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum (Contributed by Dr Robert Sarkany), Posted on April 15, 2022 by hqqu in Uncategorized
  • Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases (Contributed by Murim Choi), Posted on April 15, 2022 by hqqu in Uncategorized
  • Bi-allelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia (Contributed by Dr. Yue-Qiu Tan), 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 (Contributed by Dr. Shujin Li), Posted on April 1, 2022 by hqqu in Uncategorized
  • A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon (Contributed by Dr. Helle Høyer), Posted on March 23, 2022 by hqqu in Uncategorized
  • Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome (Contributed by Dr Hagit Daum), Posted on March 14, 2022 by hqqu in Uncategorized
  • Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants (Contributed by Professor Nicoletta Resta), Posted on March 8, 2022 by hqqu in Uncategorized
  • Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome (Contributed by Drs. Veronique Lefebvre and Rebecca Ahrens-Nicklas), Posted on March 4, 2022 by hqqu in Uncategorized
  • Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang), Posted on March 1, 2022 by hqqu in Uncategorized
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