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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 :

  • New Bone Dysplasia with Cloudy Cornea and Intellectual Disability caused by homozygous PLCB3 variants (Contributed by Sarah M. Robbins and Salma Ben-Salem), Posted on November 9, 2017 by hqqu in Uncategorized
  • Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk (Contributed by Dr. Peh Yean CHEAH), Posted on October 27, 2017 by hqqu in Uncategorized
  • A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy (Contributed by Dr. Daniele Ghezzi), Posted on October 27, 2017 by hqqu in Uncategorized
  • GWAS on prolonged gestation (post-term birth): analysis of successive Finnish birth cohorts (Contributed by Dr. Justin M. O’Sullivan), Posted on October 10, 2017 by hqqu in Uncategorized
  • SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family (Contributed by Dr. Benjamin Röben), Posted on September 15, 2017 by hqqu in Uncategorized
  • Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG (Contributed by Hanneke A. Haijes-Siepel and Dr. Peter M. van Hasselt), Posted on August 28, 2017 by hqqu in Uncategorized
  • CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh), Posted on August 28, 2017 by hqqu in Uncategorized
  • Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday), Posted on August 28, 2017 by hqqu in Uncategorized
  • 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
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