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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 :

  • Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect (Contributed by Dr Giovanni Corso), Posted on November 21, 2018 by hqqu in Uncategorized
  • Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment (Contributed by Kevin T Booth), Posted on November 21, 2018 by hqqu in Uncategorized
  • From gestalt to gene: early predictive dysmorphic features of PMM2-CDG (Contributed by Dr. Toni Martinez Monseny), Posted on November 21, 2018 by hqqu in Uncategorized
  • Practice evaluation of biobank ethics and governance: current needs and future perspectives (Contributed by Holger Langhof), Posted on November 21, 2018 by hqqu in Uncategorized
  • Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella (Contributed by Dr. Xiaojin He), Posted on November 10, 2018 by hqqu in Uncategorized
  • Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy (Contributed by Manon Suerink and Dr. Katharina Wimmer), Posted on November 10, 2018 by hqqu in Uncategorized
  • Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations (Contributed by Dr. Vincenzo Lupo), Posted on November 10, 2018 by hqqu in Uncategorized
  • Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options (Contributed by Dr. Camille Tlemsani), Posted on October 23, 2018 by hqqu in Uncategorized
  • Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank (Contributed by Crawford et al.), Posted on October 21, 2018 by hqqu in Uncategorized
  • De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy (Contributed by Dr. Saquib Lakhani), Posted on October 15, 2018 by hqqu in Uncategorized
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