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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 :

  • Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice (Contributed by Prof. Feng Zhang and Prof. Yanhua Wu), Posted on April 27, 2021 by hqqu in Uncategorized
  • Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository (Contributed by Chloe Mighton, MSc), Posted on April 20, 2021 by hqqu in Uncategorized
  • Adult phenotype of KCNQ2 encephalopathy (Contributed by Dr. Stephanie Boets), Posted on April 14, 2021 by hqqu in Uncategorized
  • Mutations in Phospholipase C eta-1 (PLCH1) are associated with Holoprosencephaly (Contributed by Dr Ichrak Drissi), Posted on April 7, 2021 by hqqu in Uncategorized
  • Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines (Contributed by Dr. Lukas Nollet on behalf of all authors), Posted on April 7, 2021 by hqqu in Uncategorized
  • Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore (Contributed by Professor Datin Paduka and Dr Teo Soo Hwang), Posted on April 5, 2021 by hqqu in Uncategorized
  • High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers (Contributed by Dr Rajiv Sarin), Posted on March 29, 2021 by hqqu in Uncategorized
  • High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen), Posted on March 25, 2021 by hqqu in Uncategorized
  • Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and twenties (Contributed by Bong Jik Kim), Posted on March 23, 2021 by hqqu in Uncategorized
  • Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study (Contributed by Dr. Sara Nuovo), Posted on March 6, 2021 by hqqu in Uncategorized
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