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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 :

  • Whole Exome Sequencing Identifies a Mutation for a Novel Form of Corneal Intraepithelial Dyskeratosis (Contributed by Dr. Vincent Soler), Posted on January 24, 2013 by hqqu in Uncategorized
  • Mutations in TMEM231 cause Meckel–Gruber syndrome (Contributed by Dr. Fowzan S Alkuraya), Posted on January 24, 2013 by hqqu in Uncategorized
  • Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron), Posted on January 23, 2013 by hqqu in Uncategorized
  • Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation (Contributed by Dr. Gregory R. Handrigan), Posted on January 18, 2013 by hqqu in Uncategorized
  • High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome (Contributed by Dr. Virginie Bubien), Posted on January 18, 2013 by hqqu in Uncategorized
  • Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon), Posted on January 13, 2013 by hqqu in Uncategorized
  • Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia (Contributed by Dr. Jadwiga Jaruzelska), Posted on January 13, 2013 by hqqu in Uncategorized
  • Breakpoint mapping by Next Generation Sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations (Contributed by Dr Caroline Schluth-Bolard), Posted on January 13, 2013 by hqqu in Uncategorized
  • Mutation of HERC2 causes developmental delay with Angelman-like features (Contributed by Dr Andrew H Crosby), Posted on December 15, 2012 by hqqu in Uncategorized
  • Paternal deletion of the KCNQ1OT1 ICR results in defective imprinting and recurrent severe Intra-Uterine Growth Restriction (Contributed by Dr. Andrea Riccio), Posted on December 15, 2012 by hqqu in Uncategorized
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