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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 :

  • Open questions on the nature of Parkinson’s disease: from triggers to spreading pathology (Contributed by Dr. Pedro Fernandez-Funez), Posted on September 6, 2019 by hqqu in Uncategorized
  • Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalized therapy: the challenge for the future guidelines (Contributed by Prof. Vincenzo Leuzzi), Posted on September 6, 2019 by hqqu in Uncategorized
  • Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy (Contributed by Dr. Bong Jik Kim), Posted on September 2, 2019 by hqqu in Uncategorized
  • De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures (Contributed by Dr. Claude Besmond), Posted on August 27, 2019 by hqqu in Uncategorized
  • New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui and Prof. Chunxiu Gong), Posted on August 20, 2019 by hqqu in Uncategorized
  • Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families (Contributed by Ms. Inge Lakeman), Posted on August 20, 2019 by hqqu in Uncategorized
  • Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome (Contributed by Dr. Ivon Cuscó Martí), Posted on August 20, 2019 by hqqu in Uncategorized
  • ‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations (Contributed by Dr Svetlana Vakkilainen), Posted on August 20, 2019 by hqqu in Uncategorized
  • Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations (Contributed by Dr. Yue-Qiu Tan), Posted on August 20, 2019 by hqqu in Uncategorized
  • Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease (Contributed by Dr. Jianwen Deng), Posted on August 20, 2019 by hqqu in Uncategorized
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