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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 :

  • Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era (Contributed by Kyra Stuurman), Posted on May 8, 2019 by hqqu in Uncategorized
  • Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis (Contributed by Drs. Shiro Ikegawa and Nao Otomo), Posted on April 30, 2019 by hqqu in Uncategorized
  • Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facio-scapulo-humeral dystrophy (Contributed by Dr. Frederique Magdinier), Posted on April 30, 2019 by hqqu in Uncategorized
  • Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy (Contributed by Dr. rer. nat. Malte Lenders), Posted on April 30, 2019 by hqqu in Uncategorized
  • Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development (Contributed by Dr. Katie Ayers), Posted on April 30, 2019 by hqqu in Uncategorized
  • A novel mutation in the GFAP gene expands the phenotype of Alexander disease (Contributed by Dr. Edgard Verdura), Posted on April 22, 2019 by hqqu in Uncategorized
  • Multivariate genome-wide association study of rapid automatized naming and rapid alternating stimulus in Hispanic American and African American youth (Contributed by Dr. Jeffrey R. Gruen), Posted on April 22, 2019 by hqqu in Uncategorized
  • Resectable Lung Lesions Malignancy Assessment and Cancer Detection by Ultra-Deep Sequencing of Targeted Gene Mutations in Plasma Cell-Free DNA (Contributed by Dr. Chuanbo Xu), Posted on April 14, 2019 by hqqu in Uncategorized
  • Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: Results of the observational AGO-TR1 study (Contributed by Dr. rer. nat. Jan Hauke), Posted on April 14, 2019 by hqqu in Uncategorized
  • Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report (Contributed by Dr. Amanda B Spurdle and Prof. Diana M Eccles), Posted on April 11, 2019 by hqqu in Uncategorized
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