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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 :

  • Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis (Contributed by Prof. Danilo Tiziano), Posted on November 27, 2022 by hqqu in Uncategorized
  • UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2 (Contributed by Dr Helen Hanson), Posted on November 22, 2022 by hqqu in Uncategorized
  • Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1 (Contributed by Dr. Alistair T Pagnamenta), Posted on November 22, 2022 by hqqu in Uncategorized
  • Characterising heart rhythm abnormalities associated with Xp22.31 deletion by Wren et al. (Contributed by Dr William Davies), Posted on November 17, 2022 by hqqu in Uncategorized
  • X-linked variations in SHROOM4 are implicated in multiple congenital anomalies of the urinary tract, the anorectal, the cardiovascular, and the central nervous system (Contributed by Dr. med. Gabriel Dworschak), Posted on November 17, 2022 by hqqu in Uncategorized
  • Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement (Contributed by Dr. Sonal Mahajan), Posted on November 11, 2022 by hqqu in Uncategorized
  • Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (Contributed by Lottie Morison), Posted on November 4, 2022 by hqqu in Uncategorized
  • The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2 (Contributed by Sue Philpott), Posted on November 2, 2022 by hqqu in Uncategorized
  • New insights into CC2D2A-related Joubert syndrome (Contributed by Madeleine Harion), Posted on November 2, 2022 by hqqu in Uncategorized
  • Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. Pierron, et al. (Contributed by Lucie Pierron, Marcela Gargiulo and Alexandra Durr), Posted on October 30, 2022 by hqqu in Uncategorized
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