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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 :

  • First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked (Contributed by Clément JANOT, Biologiste, PharmD, PhD student), Posted on August 20, 2025 by hqqu in Uncategorized
  • Homologous recombination deficiency in unselected high-grade ovarian carcinoma (Contributed by Dr Robert D Morgan), Posted on August 14, 2025 by hqqu in Uncategorized
  • New patients with duplication of the pituitary gland–plus syndrome, including a PTCH2 variant and a literature review (Contributed by Dr Duangrurdee Wattanasirichaigoon), Posted on August 14, 2025 by hqqu in Uncategorized
  • Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort (Contributed by Jackie Cappadocia, MS, LCGC), Posted on August 14, 2025 by hqqu in Uncategorized
  • Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants (Contributed by Professor Eric Pasmant), Posted on August 14, 2025 by hqqu in Uncategorized
  • Congenital heart disease in 22q11.2 Deletion syndrome: meta-analysis and systematic review of the literature (Contributed by Carina Sauter), Posted on August 4, 2025 by hqqu in Uncategorized
  • Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration (Contributed by Dr. Hafiz Muhammad Jafar Hussain), Posted on August 4, 2025 by hqqu in Uncategorized
  • ‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors (Contributed by Pr Laurence FAIVRE), Posted on July 31, 2025 by hqqu in Uncategorized
  • Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations (Contributed by Jia-Qi Li), Posted on July 18, 2025 by hqqu in Uncategorized
  • AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases (Contributed by Dr. Yongjia Yang), Posted on July 18, 2025 by hqqu in Uncategorized
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