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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 :

  • A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges (Contributed by Dr. Jaime Vengoechea and Christine Tallo, MMSc, CGC), Posted on July 28, 2017 by hqqu in Uncategorized
  • Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix (Contributed by Dr. Teresa Esposito), Posted on July 22, 2017 by hqqu in Uncategorized
  • Assessing genome-wide copy number variation in the Han Chinese population (Contributed by Prof. Dr. Shuhua Xu), Posted on July 13, 2017 by hqqu in Uncategorized
  • The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity (Contributed by Brenden Chen), Posted on June 29, 2017 by hqqu in Uncategorized
  • Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa (Contributed by Dr. Lonneke Haer-Wigman), Posted on June 24, 2017 by hqqu in Uncategorized
  • First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith), Posted on June 8, 2017 by hqqu in Uncategorized
  • Genetic causes of optic nerve hypoplasia (Contributed by Dr. Christian Schaaf), Posted on May 13, 2017 by hqqu in Uncategorized
  • The BRCA1 R1699Q intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium (Contributed by Mrs. Setareh Moghadasi and Dr. E. Gomez Garcia), Posted on May 10, 2017 by hqqu in Uncategorized
  • Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region (Contributed by Dr. Svetlana A. Yatsenko), Posted on May 8, 2017 by hqqu in Uncategorized
  • Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa (Contributed by Dr. Lonneke Haer-Wigman), Posted on April 25, 2017 by hqqu in Uncategorized
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