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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 :

  • Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism (Contributed by Dr. Jianhai Chen), Posted on April 15, 2024 by hqqu in Uncategorized
  • Pathogenic variant detection rate varies considerably in Male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 (Contributed by Professor Evans Gareth), Posted on April 12, 2024 by hqqu in Uncategorized
  • BRCA awareness and testing experience in the UK Jewish population: a qualitative study (Contributed by Prof Ranjit Manchanda), Posted on April 5, 2024 by hqqu in Uncategorized
  • Phenotypic characterisation of SMAD4 variant carriers (Contributed by Dr Sophie Dupuis-Girod), Posted on April 5, 2024 by hqqu in Uncategorized
  • Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome (Contributed by Drs. Susanna Balcells and Mónica Centeno), Posted on March 29, 2024 by hqqu in Uncategorized
  • A comparative medical genomics approach may facilitate the interpretation of rare missense variation (Contributed by Bushra Haque MSc), Posted on March 21, 2024 by hqqu in Uncategorized
  • ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favorable outcomes (Contributed by Prof. Yong-Hong Yi), Posted on March 21, 2024 by hqqu in Uncategorized
  • Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith), Posted on March 11, 2024 by hqqu in Uncategorized
  • Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service (Contributed by Dr. Jade Howard), Posted on March 11, 2024 by hqqu in Uncategorized
  • Dissecting Genetic Architecture of Rare Dystonia: Genetic, Molecular and Clinical Insights (Contributed by Dr Ebba Lohmann), Posted on March 11, 2024 by hqqu in Uncategorized
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