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About:hqqu

Profile
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 :

  • O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum (Contributed by Dr. med. Florian Erger), Posted on August 1, 2021 by hqqu in Uncategorized
  • Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series (Contributed by Dr. Nattaporn Tassanakijpanich), Posted on July 4, 2021 by hqqu in Uncategorized
  • Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population (Contributed by Dr. San Ming Wang), Posted on June 27, 2021 by hqqu in Uncategorized
  • Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state (Contributed by Dr. Knut Brockmann), Posted on June 27, 2021 by hqqu in Uncategorized
  • Adult phenotype of KCNQ2 encephalopathy (Contributed by Dr. Stephanie Boets), Posted on June 17, 2021 by hqqu in Uncategorized
  • Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission (Contributed by Dr Filippo M M Santorelli), Posted on June 17, 2021 by hqqu in Uncategorized
  • A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I (Contributed by Professor Rima Slim), Posted on May 25, 2021 by hqqu in Uncategorized
  • WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome (Contributed by Professor Timothy G Barrett), Posted on May 19, 2021 by hqqu in Uncategorized
  • Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1 (Contributed by Dr. Ashley Kahen), Posted on May 19, 2021 by hqqu in Uncategorized
  • Development and evaluation of an online, patient-driven, family outreach intervention to facilitate sharing of genetic risk information in families with Lynch syndrome (Contributed by Dr. Mala Pande), Posted on May 19, 2021 by hqqu in Uncategorized
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