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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 founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese (Contributed by Dr. Beau J Fenner), Posted on June 4, 2025 by hqqu in Uncategorized
  • Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy (Contributed by Dr. Christoph Sandmann), Posted on May 20, 2025 by hqqu in Uncategorized
  • Identification of MACF1 as a causative gene of generalised epilepsy (Contributed by Xiao-Yun Lei), Posted on May 12, 2025 by hqqu in Uncategorized
  • Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis (Contributed by Dr Christina A Gurnett), Posted on May 3, 2025 by hqqu in Uncategorized
  • Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes (Contributed by Dr Nikhil Pattani), Posted on April 22, 2025 by hqqu in Uncategorized
  • Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study (Contributed by Professor Stephen W. Scherer), Posted on April 3, 2025 by hqqu in Uncategorized
  • 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
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