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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 :

  • TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel), Posted on December 8, 2010 by hqqu in Uncategorized
  • The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen (Contributed by Dr. Peter van den Akker), Posted on November 27, 2010 by hqqu in Uncategorized
  • Mosaic trisomy 13: understanding origin using SNP array (Contributed by Dr. Denise Batista), Posted on November 20, 2010 by hqqu in Uncategorized
  • Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism (Contributed by Dr. Pablo Lapunzina), Posted on November 20, 2010 by hqqu in Uncategorized
  • Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair (Contributed by Dr. Kenneth H. Kraemer), Posted on November 20, 2010 by hqqu in Uncategorized
  • Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome (Contributed by Dr. Bente Talseth-Palmer), Posted on November 20, 2010 by hqqu in Uncategorized
  • Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB (Contributed by Dr. Koh Nakata), Posted on November 12, 2010 by hqqu in Uncategorized
  • Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy (Contributed by Dr. Edgar A Otto), Posted on November 10, 2010 by hqqu in Uncategorized
  • Genetic architecture of open-angle glaucoma and related determinants (Contributed by Drs. Wishal D. Ramdas, Johannes R. Vingerling, Cornelia M. van Duijn), Posted on November 8, 2010 by hqqu in Uncategorized
  • GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms (Contributed by Dr. Ian Carr), Posted on October 30, 2010 by hqqu in Uncategorized
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