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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 :

  • Diagnosis of ‘possible’ mitochondrial disease: an existential crisis (Contributed by Dr. Sumit Parikh), Posted on January 27, 2019 by hqqu in Uncategorized
  • Clinical spectrum and pleiotropic nature of CDH1 germline mutations (Contributed by Dr. Joana Figueiredo and Professor Raquel Seruca), Posted on January 20, 2019 by hqqu in Uncategorized
  • Longitudinal evaluation of SMN levels as biomarker for Spinal Muscular Atrophy Molecular: results of a phase-IIb double-blind study of salbutamol (Contributed by Dr. F. Danilo Tiziano), Posted on December 31, 2018 by hqqu in Uncategorized
  • MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts), Posted on December 23, 2018 by hqqu in Uncategorized
  • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? (Contributed by Agostina Stradella and Dr. Conxi Lazaro), Posted on December 23, 2018 by hqqu in Uncategorized
  • MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato), Posted on December 23, 2018 by hqqu in Uncategorized
  • Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis (Contributed by Dr. Qingjiong Zhang), Posted on December 23, 2018 by hqqu in Uncategorized
  • Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning (Contributed by Dr Jian Huang), Posted on December 23, 2018 by hqqu in Uncategorized
  • Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data (Contributed by Dr. Jun-Yu Ma), Posted on December 7, 2018 by hqqu in Uncategorized
  • Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer (Contributed by Gemma Montalban), Posted on November 24, 2018 by hqqu in Uncategorized
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