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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 :

  • Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans (Contributed by Dr. Rui Guo), Posted on February 11, 2024 by hqqu in Uncategorized
  • Molecular Diagnosis, Clinical Evaluation, and Phenotypic Spectrum of Townes-Brocks Syndrome: Insights from a large Chinese hearing loss Cohort (Contributed by Dr Jing Cheng), Posted on February 1, 2024 by hqqu in Uncategorized
  • Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus (Contributed by Liheng Chen), Posted on February 1, 2024 by hqqu in Uncategorized
  • Variant Reclassification and Clinical Ramifications (Contributed by Dr Nicola Walsh), Posted on February 1, 2024 by hqqu in Uncategorized
  • BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome (Contributed by Professor Alex N Bullock and Professor Andrew O M Wilkie), Posted on February 1, 2024 by hqqu in Uncategorized
  • Expanding the phenotype of Kleefstra syndrome: speech, language, and cognition in 103 individuals [Contributed by Lottie Morison MSpPath, BA, BSc, GCertMHSc, CPSP (she/her)], Posted on January 31, 2024 by hqqu in Uncategorized
  • The Mosaic RASopathy concept : different skin lesions, same systemic manifestations? (Contributed by Dr Marie-Anne Morren), Posted on January 31, 2024 by hqqu in Uncategorized
  • Genotype and phenotype correlation of PHACTR1-related neurological disorders (Contributed by Zhao Xu), Posted on January 26, 2024 by hqqu in Uncategorized
  • GRN mutation spectrum and genotype–phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort (Contributed by Liling Dong), Posted on January 18, 2024 by hqqu in Uncategorized
  • Clinical implications of VUS reclassification in a single-center series from application of ACMG/AMP classification rules specified for BRCA1/2 (Contributed by Dr. Giovanni Innella), Posted on January 4, 2024 by hqqu in Uncategorized
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