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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 :

  • Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta), Posted on December 19, 2025 by hqqu in Uncategorized
  • Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR (Contributed by Dr. Dong Sun), Posted on December 19, 2025 by hqqu in Uncategorized
  • Sequencing every UK newborn: why cold storage economics should shape policy (Contributed by Dr Timothy Hearn), Posted on December 18, 2025 by hqqu in Uncategorized
  • Intragenic loss-of-function variants in transcription factors MAZ, FOXP1, and SIN3B in colobomatous microphthalmia (Contributed by Dr. Elena Semina), Posted on December 9, 2025 by hqqu in Uncategorized
  • ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum (Contributed by Kevin Van Compernolle, on behalf of co-authors Jacques Van Huysse, Kathleen Claes, Ellen Denayer, Marie Bex, and Annick Van den Bruel), Posted on November 27, 2025 by hqqu in Uncategorized
  • Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies (Contributed by Dr Patrick BENUSIGLIO), Posted on November 27, 2025 by hqqu in Uncategorized
  • Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome (Contributed by Dr. Michiel Vanneste), Posted on November 27, 2025 by hqqu in Uncategorized
  • Validation of the pathology-adjusted Manchester scoring system in over 10 000 assessments of cases with breast and/or ovarian cancer (Contributed by Professor Evans Gareth), Posted on November 27, 2025 by hqqu in Uncategorized
  • Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity (Contributed by Dr. Fernando Morales), Posted on November 2, 2025 by hqqu in Uncategorized
  • Dental Agenesis as a Novel Phenotypic Feature Associated with Hereditary Diffuse Gastric Cancer in China (Contributed by Dr Lin Dong), Posted on October 24, 2025 by hqqu in Uncategorized
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