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About:hqqu

Profile
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 :

  • Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy (Contributed by Dr. Beom Hee Lee), Posted on August 24, 2017 by hqqu in Uncategorized
  • Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant (Contributed by Dr. Sadaf Naz), Posted on August 24, 2017 by hqqu in Uncategorized
  • Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci (Contributed by Dr. Christopher A Emerling), Posted on August 16, 2017 by hqqu in Uncategorized
  • Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability (Contributed by Dr. Tamar Ben-Yosef), Posted on August 9, 2017 by hqqu in Uncategorized
  • Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability (Contributed by Prof. Dr. Beat Thöny), Posted on August 9, 2017 by hqqu in Uncategorized
  • A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct (Contributed by Dr. Andrew J Griffith), Posted on August 5, 2017 by hqqu in Uncategorized
  • Increased Breast Cancer Risk in MSH2 Carriers from a Large Canadian Familial Cancer Registry (Contributed by Dr. Mira Goldberg), Posted on August 4, 2017 by hqqu in Uncategorized
  • Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders (Contributed by Drs. Julie Steffann and Jean-Paul Bonnefont), Posted on July 28, 2017 by hqqu in Uncategorized
  • A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges (Contributed by Dr. Jaime Vengoechea and Christine Tallo, MMSc, CGC), Posted on July 28, 2017 by hqqu in Uncategorized
  • Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix (Contributed by Dr. Teresa Esposito), Posted on July 22, 2017 by hqqu in Uncategorized
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