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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 :

  • Very early-onset symptomatic CNS hemangioblastoma in Von Hippel Lindau disease (Contributed by Vicente Santa-María López), Posted on March 28, 2025 by hqqu in Uncategorized
  • Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1 (Contributed by Dr. Tabea Hartung), Posted on March 28, 2025 by hqqu in Uncategorized
  • STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome (Contributed by Dr. Johann Böhm), Posted on March 28, 2025 by hqqu in Uncategorized
  • Unraveling genotype-phenotype correlations in SLC29A3-related Syndromes (Contributed by Dr. Hassan Vahidnezhad), Posted on March 21, 2025 by hqqu in Uncategorized
  • Intrinsic limitations of genomics to predict and treat autism a disorder born in the womb (Contributed by Dr Yehezkel Ben-Ari), Posted on March 13, 2025 by hqqu in Uncategorized
  • Canadian consensus for the assessment and testing of Lynch syndrome [Contributed by Melyssa Aronson, MS, (C)CGC], Posted on March 13, 2025 by hqqu in Uncategorized
  • Advancing Molecular Diagnosis in Rare Skeletal Muscle Diseases (Contributed by Victoria Lillback), Posted on March 6, 2025 by hqqu in Uncategorized
  • Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating (Contributed by Dr. Jorge Diogo Silva), Posted on February 20, 2025 by hqqu in Uncategorized
  • Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3 (Contributed by Dr Dibyendu Dutta), Posted on February 4, 2025 by hqqu in Uncategorized
  • Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralized overgrowth (Contributed by Dr. Katie Snape), Posted on January 27, 2025 by hqqu in Uncategorized
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