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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 :

  • Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025 (Contributed by Professor David Sillence), Posted on June 9, 2025 by hqqu in Uncategorized
  • De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy (Contributed by Dr. Zi-Long Ye), Posted on June 9, 2025 by hqqu in Uncategorized
  • Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry (Contributed by Dr. Priya S Kishnani), Posted on June 9, 2025 by hqqu in Uncategorized
  • A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature review (Contributed by Dr. Jie Ni), Posted on June 4, 2025 by hqqu in Uncategorized
  • 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
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