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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 :

  • Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population (Contributed by Dr. Anna K. Naumova), Posted on December 15, 2015 by hqqu in Uncategorized
  • Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration (Contributed by Dr. Mariska Davids), Posted on December 14, 2015 by hqqu in Uncategorized
  • The Regulatory Element READ1 Epistatically Influences Reading and Language, with both Deleterious and Protective Alleles (Contributed by Dr. Jeffrey Gruen), Posted on December 12, 2015 by hqqu in Uncategorized
  • Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases (Contributed by Dr. med. Isabel Spier), Posted on November 28, 2015 by hqqu in Uncategorized
  • Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins (Contributed by Prof Petrus J de Vries), Posted on November 26, 2015 by hqqu in Uncategorized
  • Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family (Contributed by Rafiullah Rafiullah & Dr. Simone Berkel), Posted on November 14, 2015 by hqqu in Uncategorized
  • Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome (Contributed by Dr. Jennifer Kalish), Posted on November 7, 2015 by hqqu in Uncategorized
  • UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN (Contributed by Yonatan Perez and Prof. Ohad Birk), Posted on November 7, 2015 by hqqu in Uncategorized
  • Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome (Contributed by Dr. Alisdair McNeill), Posted on November 6, 2015 by hqqu in Uncategorized
  • Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families (Contributed by Dr. Georgia Chenevix-Trench), Posted on November 3, 2015 by hqqu in Uncategorized
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