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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 :

  • New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study (Contributed by Dr. Marc Tischkowitz), Posted on May 12, 2016 by hqqu in Uncategorized
  • Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes (Contributed by Dr. Susanne Roosing), Posted on May 6, 2016 by hqqu in Uncategorized
  • When chromatin organisation floats astray: the Srcap gene and Floating–Harbor syndrome (Contributed by Professor Patrizio Dimitri), Posted on April 26, 2016 by hqqu in Uncategorized
  • A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype (Contributed by Dr. Charlotte Alston), Posted on April 18, 2016 by hqqu in Uncategorized
  • Microduplications at the Pseudoautosomal SHOX Locus in Autism Spectrum Disorders and Related Neurodevelopmental Conditions (Contributed by Dr. Maria Tropeano), Posted on April 12, 2016 by hqqu in Uncategorized
  • Functional and genetic epidemiological characterisation of the FFAR4 (GPR120) p.R270H variant in the Danish population (Contributed by Marie Aare Vestmar), Posted on April 11, 2016 by hqqu in Uncategorized
  • Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia (Contributed by Aideen McInerney-Leo), Posted on April 11, 2016 by hqqu in Uncategorized
  • Naturally occurring BRCA2 alternate mRNA splicing events in clinically relevant samples (Contributed by Dr. James D. Fackenthal), Posted on April 8, 2016 by hqqu in Uncategorized
  • Germline RRAS2 Mutations are not associated with Noonan Syndrome (Contributed by Dr. Elliot Stieglitz), Posted on April 7, 2016 by hqqu in Uncategorized
  • Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels (Contributed by Elisa van Leeuwen), Posted on April 1, 2016 by hqqu in Uncategorized
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