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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 :

  • Novel and known ribosomal causes of Diamond-Blackfan anemia identified through comprehensive genomic characterization (Contributed by Dr. Payal P. Khincha), Posted on March 9, 2017 by hqqu in Uncategorized
  • A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis (Contributed by Dr. Patrick Frosk), Posted on March 6, 2017 by hqqu in Uncategorized
  • Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts (Contributed by Prof. Anna Jansen), Posted on March 3, 2017 by hqqu in Uncategorized
  • A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi Family (Contributed by Atia Sheereen), Posted on January 31, 2017 by hqqu in Uncategorized
  • GPRASP2, a Novel Causative Gene implicated in an X-Linked Recessive Syndromic Hearing Loss (Contributed by Professor Xin Cao), Posted on January 17, 2017 by hqqu in Uncategorized
  • A liminal stage after predictive testing for Huntington disease (Contributed by Dr. Alexandra Durr), Posted on January 13, 2017 by hqqu in Uncategorized
  • No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells (Contributed by Dr. Julie STEFFANN), Posted on January 9, 2017 by hqqu in Uncategorized
  • Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (Contributed by Dr. Jean-Michel ROZET), Posted on December 28, 2016 by hqqu in Uncategorized
  • Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B (Contributed by Vijaya L Simhadri), Posted on December 22, 2016 by hqqu in Uncategorized
  • Precise long non-coding RNA modulation in visual maintenance and impairment (Contributed by Dr. Yehong Zhuo), Posted on December 21, 2016 by hqqu in Uncategorized
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