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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 :

  • Bilateral vestibular schwannomas in older patients: NF2 or chance? (Contributed by Prof. D Gareth Evans), Posted on February 27, 2015 by hqqu in Uncategorized
  • A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype (Contributed by Nancy Hamel), Posted on February 17, 2015 by hqqu in Uncategorized
  • BRCA1 Circos: a visualisation resource for functional analysis of missense variants (Contributed by Dr. Alvaro N. Monteiro), Posted on February 2, 2015 by hqqu in Uncategorized
  • Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing, Posted on January 29, 2015 by hqqu in Uncategorized
  • DCAF4, a novel gene associated with leucocyte telomere length (Contributed by Dr. Massimo Mangino), Posted on January 27, 2015 by hqqu in Uncategorized
  • MuSK – a novel gene for fetal death (Contributed by Dr. Maria Wilbe), Posted on January 23, 2015 by hqqu in Uncategorized
  • Mutation in RNF113A that shines a new light on trichothiodystrophy (Contributed by Dr. Mark Corbett), Posted on January 22, 2015 by hqqu in Uncategorized
  • Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1 (Contributed by Dr. David Stevenson), Posted on January 22, 2015 by hqqu in Uncategorized
  • Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature (Contributed by Dr. Elsebet Ostergaard), Posted on January 21, 2015 by hqqu in Uncategorized
  • mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing (Contributed by Dr. Jinyu Wu), Posted on January 16, 2015 by hqqu in Uncategorized
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