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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 form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1 (Contributed by Professor Sadaf Naz), Posted on June 28, 2020 by hqqu in Uncategorized
  • Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits (Contributed by Dr. Francesca M. Buffa), Posted on June 28, 2020 by hqqu in Uncategorized
  • Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study (Contributed by Salma Shickh), Posted on June 24, 2020 by hqqu in Uncategorized
  • Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome (Contributed by Dr. Kazuki Yamazawa), Posted on June 24, 2020 by hqqu in Uncategorized
  • Sporadic vestibular schwannoma: a molecular testing summary (Contributed by Katie Sadler), Posted on June 24, 2020 by hqqu in Uncategorized
  • Co-occurrence of germline BRCA1 and CDH1 pathogenic variants (Contributed by Marie-Charlotte Villy), Posted on June 24, 2020 by hqqu in Uncategorized
  • 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
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