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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 loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality (Contributed by Dr Marilena Elpidorou), Posted on June 24, 2020 by hqqu in Uncategorized
  • Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach (Contributed by Dr Georgios Koutsis), Posted on June 24, 2020 by hqqu in Uncategorized
  • Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients (Contributed by Dr. Hui Xiong), Posted on June 24, 2020 by hqqu in Uncategorized
  • UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants (Contributed by Dr. Helen Hanson), Posted on June 24, 2020 by hqqu in Uncategorized
  • Haploinsufficiency of the NF1 gene is associated with protection against diabetes (Contributed by Professor Juha Peltonen), Posted on June 24, 2020 by hqqu in Uncategorized
  • Rare and de novo duplications containing SHOX in clubfoot (Contributed by Brooke Sadler), Posted on June 9, 2020 by hqqu in Uncategorized
  • Genetic and functional insights into CDA-I prevalence and pathogenesis (Contributed by Dr. Christian Babbs), Posted on June 9, 2020 by hqqu in Uncategorized
  • NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum (Contributed by Dr. Peggy S. Eis), Posted on June 9, 2020 by hqqu in Uncategorized
  • TMEM16A deficiency – a potentially fatal neonatal disease resulting from impaired chloride currents (Contributed by Julien H. Park et al.), Posted on June 2, 2020 by hqqu in Uncategorized
  • A homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anemia trait (Contributed by Prof. Micheline Misrahi), Posted on June 1, 2020 by hqqu in Uncategorized
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