Skip to content
JMG Blog logo
  • Home
  • Journal

About:hqqu

Profile
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 :

  • 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
  • SOX10: twenty years of phenotypic plurality and current understanding of its developmental function (Contributed by Dr. Veronique Pingault), Posted on October 21, 2021 by hqqu in Uncategorized
  • Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex (Contributed by Dr. Katarzyna Klonowska), Posted on October 15, 2021 by hqqu in Uncategorized
  • Biallelic variants in ZFP36L2 cause female infertility characterized by recurrent preimplantation embryo arrest (Contributed by Prof. Ge Lin and Heng-Yu Fan), Posted on October 7, 2021 by hqqu in Uncategorized
  • «Previous page
  • 31
  • 32
  • 33
  • 34
  • 35
  • »Next page
  • 105

BMJ Careers

BMJ Blogs

Comment and Opinion | Open Debate

The views and opinions expressed on this site are solely those of the original authors. They do not necessarily represent the views of BMJ and should not be used to replace medical advice. Please see our full website terms and conditions.

All BMJ blog posts are posted under a CC-BY-NC licence

BMJ Journals

© BMJ Publishing Group Limited 2026. All rights reserved.