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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 :

  • 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
  • Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences (Contributed by Dr. Weimin Bi), Posted on January 13, 2023 by hqqu in Uncategorized
  • Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes (Contributed by Prof. Derralynn Hughes), Posted on January 13, 2023 by hqqu in Uncategorized
  • FXN gene methylation determines carrier status in Friedreich ataxia (Contributed by Dr. Sanjay I. Bidichandani), Posted on January 13, 2023 by hqqu in Uncategorized
  • Clinical and genetic features of GATOR1 complex-associated epilepsy (Contributed by Dr. Qing Liu), Posted on January 7, 2023 by hqqu in Uncategorized
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