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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 :

  • Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors), Posted on February 4, 2022 by hqqu in Uncategorized
  • Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants (Contributed by Dr Xavier Llor), Posted on January 25, 2022 by hqqu in Uncategorized
  • Long term dormancy in a BRCA1 heterozygote (Contributed by Drs. Setor Amuzu, Lili Fu, and William D Foulkes), Posted on January 17, 2022 by hqqu in Uncategorized
  • CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome (Contributed by Dr. Giovanni Corso), Posted on December 26, 2021 by hqqu in Uncategorized
  • Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants (Contributed by Dr. Clément Desjardins), Posted on December 26, 2021 by hqqu in Uncategorized
  • Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles (Contributed by Dr Alal Eran), Posted on December 21, 2021 by hqqu in Uncategorized
  • 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
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