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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 :

  • Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations (Contributed by Dr. Jia-Qi Li), Posted on July 4, 2025 by hqqu in Uncategorized
  • New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese), Posted on June 26, 2025 by hqqu in Uncategorized
  • Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS (Contributed by Dr Yordi-Michaël BOUHATOUS and Pr Laurence FAIVRE), Posted on June 26, 2025 by hqqu in Uncategorized
  • Reproductive decision-making and pregnancy in germline CDH1 variant carriers (Contributed by Dr. Amber F. Gallanis), Posted on June 26, 2025 by hqqu in Uncategorized
  • Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes (Contributed by Lindsey Byrne, MS, CGC), Posted on June 18, 2025 by hqqu in Uncategorized
  • The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss (Contributed by Dr Xuewen Wu), Posted on June 18, 2025 by hqqu in Uncategorized
  • 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
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