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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 loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex (Contributed by Dr. med. Tobias Haack), Posted on November 8, 2021 by hqqu in Uncategorized
  • Complex pathway to identification of Fanconi anaemia due to biallelic BRCA2 variants presenting as severe chemotherapy toxicity in adulthood (Contributed by Emilia Ip), Posted on October 28, 2021 by hqqu in Uncategorized
  • SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum (Contributed by Professor Enza Maria Valente), Posted on October 23, 2021 by hqqu in Uncategorized
  • NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation (Contributed by Yu Fan), Posted on October 23, 2021 by hqqu in Uncategorized
  • SOX10: twenty years of phenotypic plurality and current understanding of its developmental function (Contributed by Dr. Veronique Pingault), Posted on October 21, 2021 by hqqu in Uncategorized
  • Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex (Contributed by Dr. Katarzyna Klonowska), Posted on October 15, 2021 by hqqu in Uncategorized
  • Biallelic variants in ZFP36L2 cause female infertility characterized by recurrent preimplantation embryo arrest (Contributed by Prof. Ge Lin and Heng-Yu Fan), Posted on October 7, 2021 by hqqu in Uncategorized
  • Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing (Contributed by Dr. Yifan Wang), Posted on September 25, 2021 by hqqu in Uncategorized
  • A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium (Contributed by Jane Tiller), Posted on September 21, 2021 by hqqu in Uncategorized
  • Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality (Contributed by Dr. Carrie Welch), Posted on September 8, 2021 by hqqu in Uncategorized
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