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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 :

  • Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort (Contributed by Jackie Cappadocia, MS, LCGC), Posted on August 14, 2025 by hqqu in Uncategorized
  • Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants (Contributed by Professor Eric Pasmant), Posted on August 14, 2025 by hqqu in Uncategorized
  • Congenital heart disease in 22q11.2 Deletion syndrome: meta-analysis and systematic review of the literature (Contributed by Carina Sauter), Posted on August 4, 2025 by hqqu in Uncategorized
  • Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration (Contributed by Dr. Hafiz Muhammad Jafar Hussain), Posted on August 4, 2025 by hqqu in Uncategorized
  • ‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors (Contributed by Pr Laurence FAIVRE), Posted on July 31, 2025 by hqqu in Uncategorized
  • Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations (Contributed by Jia-Qi Li), Posted on July 18, 2025 by hqqu in Uncategorized
  • AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases (Contributed by Dr. Yongjia Yang), Posted on July 18, 2025 by hqqu in Uncategorized
  • Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression (Contributed by Dr. Tony YAMMINE), Posted on July 12, 2025 by hqqu in Uncategorized
  • Evaluation of whole-body MRI for cancer early detection in Li-Fraumeni syndrome (Contributed by Peter Sodde), Posted on July 4, 2025 by hqqu in Uncategorized
  • Investigating the use of a patient-facing digital app to support Lynch syndrome carriers in the management of their condition (Contributed by Megan Hopkinson), Posted on July 4, 2025 by hqqu in Uncategorized
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