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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 :

  • Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples (Contributed by Prof. Minyue Dong), Posted on April 4, 2023 by hqqu in Uncategorized
  • The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum (Contributed by Dr Maria Francesca Di Feo), Posted on March 29, 2023 by hqqu in Uncategorized
  • PSMD3 gene mutations cause pathological myopia (Contributed by Dr. Jing Chen), Posted on March 26, 2023 by hqqu in Uncategorized
  • MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1 (Contributed by Dr Niki Flaum), Posted on March 10, 2023 by hqqu in Uncategorized
  • Update of penetrance estimates in Birt-Hogg-Dubé syndrome (Contributed by Dr Fiona Jane Bruinsma), Posted on March 1, 2023 by hqqu in Uncategorized
  • Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) (Contributed by Drs. Hilary Vallance and Melissa Carter), Posted on March 1, 2023 by hqqu in Uncategorized
  • Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 (Contributed by Dr Agustín Ibáñez), Posted on February 23, 2023 by hqqu in Uncategorized
  • Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations (Contributed by Dr. Ming-yi Chung), Posted on January 23, 2023 by hqqu in Uncategorized
  • Biallelic frameshift variants in PHLDB1 cause mild type Osteogenesis Imperfecta with regressive spondylometaphyseal changes (Contributed by Prof. Beyhan Tüysüz), Posted on January 13, 2023 by hqqu in Uncategorized
  • Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events (Contributed by Alba Segarra Casas), Posted on January 13, 2023 by hqqu in Uncategorized
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