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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 :

  • 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
  • A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement (Contributed by Dr. Megana Prasad), Posted on October 26, 2015 by hqqu in Uncategorized
  • MKS1 regulates ciliary INPP5E levels in Joubert syndrome (Contributed by Gisela Slaats), Posted on October 22, 2015 by hqqu in Uncategorized
  • High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome (Contributed by Dr. Leanne de Kock), Posted on October 16, 2015 by hqqu in Uncategorized
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