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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 :

  • 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
  • Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy (Contributed by Prof. Dr. Barbara Plecko), Posted on April 8, 2017 by hqqu in Uncategorized
  • Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome (Contributed by Prof. Toshiyuki Miyashita), Posted on March 31, 2017 by hqqu in Uncategorized
  • Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus (Contributed by Dr. F. Yesim Demirci), Posted on March 13, 2017 by hqqu in Uncategorized
  • 15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes (Contributed by Dr. Ange-Line Bruel), Posted on March 13, 2017 by hqqu in Uncategorized
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