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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 :

  • A founder UMOD variant is a common cause of hereditary nephropathy in the British population (Contributed by Professor Albert Ong), Posted on September 1, 2022 by hqqu in Uncategorized
  • TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation (Contributed by Dr. Rick F Nelson), Posted on August 16, 2022 by hqqu in Uncategorized
  • CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR (Contributed by Dr. Masayo Kagami 鏡 雅代), Posted on July 30, 2022 by hqqu in Uncategorized
  • Axenfeld-Rieger syndrome: more than meets the eye (Contributed by Dr. Elena Semina), Posted on July 27, 2022 by hqqu in Uncategorized
  • A digital pathway for genetic testing in UK NHS cancer patients: BRCA-DIRECT study internal pilot (Contributed by Bethany Torr), Posted on July 23, 2022 by hqqu in Uncategorized
  • Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China (Contributed by Dr. Yuelin Shen), Posted on July 21, 2022 by hqqu in Uncategorized
  • Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans (Contributed by Dr Nicolas Chassaing), Posted on July 5, 2022 by hqqu in Uncategorized
  • A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain), Posted on July 4, 2022 by hqqu in Uncategorized
  • Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach (Contributed by Prof. Colin A. Johnson), Posted on June 28, 2022 by hqqu in Uncategorized
  • Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations (Contributed by Dr Pauline LE TANNO), Posted on June 15, 2022 by hqqu in Uncategorized
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