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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 :

  • Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang), Posted on November 13, 2019 by hqqu in Uncategorized
  • Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing (Contributed by Remko Goossens), Posted on November 5, 2019 by hqqu in Uncategorized
  • Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end (Contributed by Prof. Cristiano Simone), Posted on October 8, 2019 by hqqu in Uncategorized
  • Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia (Contributed by Dr. Edgard Verdura), Posted on October 8, 2019 by hqqu in Uncategorized
  • Increasing knowledge in IGF1R defects: lessons from 35 new patients (Contributed by Dr Eloïse Giabicani), Posted on October 8, 2019 by hqqu in Uncategorized
  • Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency (Contributed by Dr. Yael Goldberg), Posted on September 25, 2019 by hqqu in Uncategorized
  • Biallelic Mutations in CFAP65 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice (Contributed by Prof. Feng Zhang), Posted on September 25, 2019 by hqqu in Uncategorized
  • Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy (Contributed by Dr. Johanna Herkert), Posted on September 25, 2019 by hqqu in Uncategorized
  • Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status (Contributed by Dr. George Burghel), Posted on September 25, 2019 by hqqu in Uncategorized
  • Genetic aetiology of early infant deaths in a neonatal intensive care unit (Contributed by Drs. Xu Liu and Lin Yang), Posted on September 25, 2019 by hqqu in Uncategorized
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