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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 variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy (Contributed by Dr. Andrea Riccio), Posted on September 17, 2020 by hqqu in Uncategorized
  • De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes (Contributed by Professor Judith Melki), Posted on September 17, 2020 by hqqu in Uncategorized
  • Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies (Contributed by Dr. Jens König), Posted on September 12, 2020 by hqqu in Uncategorized
  • Loss-of-function variants in POT1 predispose to uveal melanoma (Contributed by Vaishnavi Nathan), Posted on September 12, 2020 by hqqu in Uncategorized
  • Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome (Contributed by Dr. Silke Peeters), Posted on September 9, 2020 by hqqu in Uncategorized
  • RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports (Contributed by Dr. Mekki Ahmed), Posted on September 9, 2020 by hqqu in Uncategorized
  • A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function (Contributed by Dr. Mythily Ganapathi and Dr. Volkan Okur), Posted on August 26, 2020 by hqqu in Uncategorized
  • Determinants of quality of life in Rett syndrome: new findings on associations with genotype (Contributed by Prof Jenny Downs), Posted on August 26, 2020 by hqqu in Uncategorized
  • Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi), Posted on August 26, 2020 by hqqu in Uncategorized
  • Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment (Contributed by Dr. Pingping Song), Posted on August 21, 2020 by hqqu in Uncategorized
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