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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 :

  • Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumors: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome (Contributed by Dr. Peter Igaz), Posted on December 16, 2021 by hqqu in Uncategorized
  • Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts (Contributed by Professor Sahar Mansour), Posted on December 16, 2021 by hqqu in Uncategorized
  • Loeys-Dietz and Shprintzen-Goldberg Syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multi-modality method (Contributed by Dr. Konstantinia Almpani), Posted on December 16, 2021 by hqqu in Uncategorized
  • New locus underlying familial adenomatous polyposis: 3.9 MB rearrangement disrupting APC expression (Contributed by Florentine Scharf), Posted on December 15, 2021 by hqqu in Uncategorized
  • 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
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