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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 :

  • Under-recognized neurocognitive deficits in adults and adolescents with Tuberous Sclerosis Complex (Contributed by Dr Mark R Keezer), Posted on January 21, 2025 by hqqu in Uncategorized
  • PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations (Contributed by Dr. Hiroshi Koga), Posted on January 21, 2025 by hqqu in Uncategorized
  • Advances in research on the mechanism of tsRNA action in tumours (Contributed by Professor Ming Lei), Posted on January 14, 2025 by hqqu in Uncategorized
  • A founder deletion involving BRCA1 in families of Nepalese origin: the perfect hiding place! (Contributed by Dr. Alistair T Pagnamenta), Posted on January 14, 2025 by hqqu in Uncategorized
  • Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics (Contributed by Dr. Paul Dremsek), Posted on January 14, 2025 by hqqu in Uncategorized
  • Aortic and Arterial Manifestations and Clinical Features in TGFB3-Related Heritable Thoracic Aortic Disease: Results from the Montalcino Aortic Consortium (Contributed by Dr. Michelle Su-Anne Lim), Posted on January 14, 2025 by hqqu in Uncategorized
  • Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis (Contributed by Dr. Yinghong Pan), Posted on January 14, 2025 by hqqu in Uncategorized
  • Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates (Contributed by Dr. Fulvio D’Abrusco), Posted on January 14, 2025 by hqqu in Uncategorized
  • Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer (Contributed by Dr. Anna Byrjalsen), Posted on January 14, 2025 by hqqu in Uncategorized
  • From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China (Contributed by Jiawen Wu and Jihong Wu), Posted on January 14, 2025 by hqqu in Uncategorized
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