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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 :

  • Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia (Contributed by Dr. Edgard Verdura), Posted on October 8, 2019 by hqqu in Uncategorized
  • Increasing knowledge in IGF1R defects: lessons from 35 new patients (Contributed by Dr Eloïse Giabicani), Posted on October 8, 2019 by hqqu in Uncategorized
  • Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency (Contributed by Dr. Yael Goldberg), Posted on September 25, 2019 by hqqu in Uncategorized
  • Biallelic Mutations in CFAP65 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice (Contributed by Prof. Feng Zhang), Posted on September 25, 2019 by hqqu in Uncategorized
  • Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy (Contributed by Dr. Johanna Herkert), Posted on September 25, 2019 by hqqu in Uncategorized
  • Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status (Contributed by Dr. George Burghel), Posted on September 25, 2019 by hqqu in Uncategorized
  • Genetic aetiology of early infant deaths in a neonatal intensive care unit (Contributed by Drs. Xu Liu and Lin Yang), Posted on September 25, 2019 by hqqu in Uncategorized
  • Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease (Contributed by Dr Kevin Mills), Posted on September 14, 2019 by hqqu in Uncategorized
  • Impact of DNA source on genetic variant detection from human whole-genome sequencing data (Contributed by Dr. Brett Trost), Posted on September 14, 2019 by hqqu in Uncategorized
  • Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation (Contributed by Prof. Kyproula Christodoulou), Posted on September 14, 2019 by hqqu in Uncategorized
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