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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 :

  • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? (Contributed by Agostina Stradella and Dr. Conxi Lazaro), Posted on December 23, 2018 by hqqu in Uncategorized
  • MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato), Posted on December 23, 2018 by hqqu in Uncategorized
  • Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis (Contributed by Dr. Qingjiong Zhang), Posted on December 23, 2018 by hqqu in Uncategorized
  • Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning (Contributed by Dr Jian Huang), Posted on December 23, 2018 by hqqu in Uncategorized
  • Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data (Contributed by Dr. Jun-Yu Ma), Posted on December 7, 2018 by hqqu in Uncategorized
  • Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer (Contributed by Gemma Montalban), Posted on November 24, 2018 by hqqu in Uncategorized
  • Mapping of breakpoints in balanced chromosomal translocations by shallow whole genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders (Contributed by Prof. dr hab. Rafal Ploski), Posted on November 21, 2018 by hqqu in Uncategorized
  • Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome of unknown etiology (Contributed by Dr. Masayo Kagami), Posted on November 21, 2018 by hqqu in Uncategorized
  • Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect (Contributed by Dr Giovanni Corso), Posted on November 21, 2018 by hqqu in Uncategorized
  • Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment (Contributed by Kevin T Booth), Posted on November 21, 2018 by hqqu in Uncategorized
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