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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 :

  • Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism (Contributed by Prof. Asli Tolun), Posted on June 7, 2013 by hqqu in Uncategorized
  • A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia (Contributed by Dr. Alfredo Brusco), Posted on June 7, 2013 by hqqu in Uncategorized
  • Identification of well-differentiated gene expressions between Han Chinese and Japanese using genome-wide microarray data analysis (Contributed by Dr. Shuhua Xu), Posted on June 4, 2013 by hqqu in Uncategorized
  • CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO), Posted on May 25, 2013 by hqqu in Uncategorized
  • Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants (Contributed by Dr Gabriel Capellá and Dr Marta Pineda), Posted on May 24, 2013 by hqqu in Uncategorized
  • Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly (Contributed by Fadi F. Hamdan, PhD), Posted on May 18, 2013 by hqqu in Uncategorized
  • Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (Contributed by Marco Tartaglia, PhD), Posted on May 18, 2013 by hqqu in Uncategorized
  • An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor to Graves’ disease (Contributed by Professor Wei Huang), Posted on May 10, 2013 by hqqu in Uncategorized
  • Upregulation of RCAN1 causes Down syndrome-like immune dysfunction (Contributed by Dr. Melanie Pritchard), Posted on May 3, 2013 by hqqu in Uncategorized
  • Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus (Contributed by Dr. Fowzan S Alkuraya), Posted on April 26, 2013 by hqqu in Uncategorized
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