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About:hqqu

Profile: 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 :

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK (Contributed by Dr. Anne E Cust), Posted on February 15, 2011 by hqqu in Uncategorized
A homozygous nonsense mutation (c.214C>A) in biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis (Contributed by Dr. Jose J. G. Marin), Posted on January 30, 2011 by hqqu in Uncategorized
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations (Contributed by Dr. Saba Sharif), Posted on January 30, 2011 by hqqu in Uncategorized
Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset (Contributed by Dr. Miriam J Smith), Posted on January 30, 2011 by hqqu in Uncategorized
DICER1 syndrome – clarifying the diagnosis, clinical features and management implications of a pleiotropic tumor predisposition syndrome (Contributed by Dr. Ingrid Slade), Posted on January 25, 2011 by hqqu in Uncategorized
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general pediatric population (Contributed by Dr. Dilys M. Parry), Posted on January 25, 2011 by hqqu in Uncategorized
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype (Contributed by Pia Ostergaard, Michael A Simpson, Glen Brice, Sahar Mansour, Fiona C Connell, Alexandros Onoufriadis, Anne H Child, Jae Hwang, Kamini Kalidas, Peter S Mortimer, Richard Trembath, Steve Jeffery), Posted on January 25, 2011 by hqqu in Uncategorized
GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3 (Contributed by Dr. Maurizio Aricò), Posted on January 20, 2011 by hqqu in Uncategorized
What did we learn from the genome-wide association study for tuberculosis susceptibility?, Posted on January 14, 2011 by hqqu in Uncategorized
Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrallés), Posted on January 8, 2011 by hqqu in Uncategorized

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