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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 :

  • Biallelic ANGPT2 loss-of-function causes severe early onset nonimmune hydrops fetalis (Contributed by Dr. Marie Smeland), Posted on December 9, 2021 by hqqu in Uncategorized
  • Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study (Contributed by Mr. Kristoffer Björkman), Posted on December 9, 2021 by hqqu in Uncategorized
  • Pharmacogenomic testing and prescribing patterns for cancer patients in a large national precision medicine cohort (Contributed by Drs. Jay G. Ronquillo and William T. Lester), Posted on December 9, 2021 by hqqu in Uncategorized
  • Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) (Contributed by Dr. Tomoki Kosho), Posted on November 24, 2021 by hqqu in Uncategorized
  • Variable skeletal phenotypes associated with biallelic variants in PRKG2 (Contributed by Dr. Alistair Pagnamenta), Posted on November 16, 2021 by hqqu in Uncategorized
  • New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements (Contributed by Dr. Maria Rita Passos Bueno), Posted on November 11, 2021 by hqqu in Uncategorized
  • 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
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