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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 :

  • A Novel Immunodeficiency Syndrome Associated with Partial Trisomy 19p13 (Contributed by Dr. Markus G. Seidel), Posted on January 15, 2014 by hqqu in Uncategorized
  • A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation (Contributed by Dr Fowzan S Alkuraya), Posted on January 13, 2014 by hqqu in Uncategorized
  • Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz), Posted on January 13, 2014 by hqqu in Uncategorized
  • Prenylation defects in inherited retinal diseases (Contributed by Dr. Anna Siemiatkowska), Posted on January 8, 2014 by hqqu in Uncategorized
  • Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome (Contributed by Dr. Michelle Olsen), Posted on January 7, 2014 by hqqu in Uncategorized
  • NECAP1 loss of function leads to a severe infantile epileptic encephalopathy (Contributed by Dr. Anas M Alazami), Posted on January 7, 2014 by hqqu in Uncategorized
  • The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan), Posted on December 23, 2013 by hqqu in Uncategorized
  • The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype (Contributed by Dr Alexander Hamilton), Posted on December 16, 2013 by hqqu in Uncategorized
  • Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia (Contributed by Dr. Roddy Walsh), Posted on December 16, 2013 by hqqu in Uncategorized
  • Autism traits in the RASopathies (Contributed by Brigid Adviento), Posted on December 16, 2013 by hqqu in Uncategorized
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