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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 :

  • Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies (Contributed by Michael Chong), Posted on August 10, 2019 by hqqu in Uncategorized
  • Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms (Contributed by Dr. Zuzanna Bukowy-Bieryllo), Posted on August 4, 2019 by hqqu in Uncategorized
  • Retraction of flawed research articles: the case of genetics (Contributed by Drs. Rafael Dal−Ré and Carmen Ayuso), Posted on July 17, 2019 by hqqu in Uncategorized
  • RASA1 mosaic mutations in patients with capillary malformation – arteriovenous malformation (Contributed by Dr. Nicole Revencu), Posted on July 17, 2019 by hqqu in Uncategorized
  • CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley), Posted on July 17, 2019 by hqqu in Uncategorized
  • One in three highly selected Greek breast cancer patients carries a loss-of-function variant in a cancer susceptibility gene (Contributed by Dr. Florentia Foster), Posted on July 17, 2019 by hqqu in Uncategorized
  • Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria (Contributed by Dr. Xavier Llor), Posted on July 17, 2019 by hqqu in Uncategorized
  • Genetic characteristics of retinitis pigmentosa in 1,204 Japanese patients (Contributed by Dr. Yoshito Koyanagi), Posted on June 23, 2019 by hqqu in Uncategorized
  • Familial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers), Posted on June 10, 2019 by hqqu in Uncategorized
  • Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis (Contributed by Dr. Brooke Sadler), Posted on June 9, 2019 by hqqu in Uncategorized
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