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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 :

  • Adaptive Nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication (Contributed by Dr Mathilde Filser), Posted on September 2, 2023 by hqqu in Uncategorized
  • Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant (Contributed by María Justel), Posted on September 2, 2023 by hqqu in Uncategorized
  • Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation (Contributed by Dr. Zhengwei Yuan), Posted on September 2, 2023 by hqqu in Uncategorized
  • TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall), Posted on September 2, 2023 by hqqu in Uncategorized
  • Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer (Contributed by Dr. Sara Fernández-Castillejo), Posted on August 18, 2023 by hqqu in Uncategorized
  • Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature (Contributed by Dr. Francesca Peluso), Posted on August 18, 2023 by hqqu in Uncategorized
  • Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients (Contributed by Dr. Wenjuan Qiu), Posted on August 18, 2023 by hqqu in Uncategorized
  • Clinical, genetic and biochemical signatures of RBP4-related ocular malformations (Contributed by Bertrand Chesneau), Posted on August 18, 2023 by hqqu in Uncategorized
  • Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project (Contributed by A Rachel Moore), Posted on August 10, 2023 by hqqu in Uncategorized
  • Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall), Posted on August 7, 2023 by hqqu in Uncategorized
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