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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 :

  • Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation (Contributed by Dr Emily Mira Warshauer), Posted on September 26, 2025 by hqqu in Uncategorized
  • The Genetics Behind Nanophthalmos (Contributed by Dr. Qingdan Xu), Posted on September 26, 2025 by hqqu in Uncategorized
  • GAPO syndrome: a comprehensive examination and review of 105 clinical cases (Contributed by Dr. Clarissa Modafferi), Posted on September 26, 2025 by hqqu in Uncategorized
  • Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus (Contributed by Dr. Jing Cheng), Posted on September 26, 2025 by hqqu in Uncategorized
  • Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder (Contributed by Jeanne Jury), Posted on September 26, 2025 by hqqu in Uncategorized
  • Six at Sixty. ‘No gain, no pain’: medical genetics taking Nav1.7 from target to pharmacy (Contributed by Pu Xia), Posted on September 17, 2025 by hqqu in Uncategorized
  • Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement (Contributed by Fulvio D’Abrusco), Posted on September 17, 2025 by hqqu in Uncategorized
  • Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification (Contributed by Dr Tamar Harel), Posted on September 10, 2025 by hqqu in Uncategorized
  • Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with Parkinsonism (Contributed by Dr. Carme Fons), Posted on September 10, 2025 by hqqu in Uncategorized
  • Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia (Contributed by Ms. Jeanette Yuen), Posted on September 10, 2025 by hqqu in Uncategorized
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