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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 :

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly (Contributed by Dr Robert Pitceathly), Posted on March 5, 2011 by hqqu in Uncategorized
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome (Contributed by Heleen Arts, PhD), Posted on March 5, 2011 by hqqu in Uncategorized
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype (Contributed by Jorieke EH Bergman, MD), Posted on March 5, 2011 by hqqu in Uncategorized
A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family (Contributed by Professor Yiming Wang), Posted on February 26, 2011 by hqqu in Uncategorized
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia (Contributed by Dr. Holm Schneider), Posted on February 26, 2011 by hqqu in Uncategorized
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

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