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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 :

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients (Contributed by Dr. Maria Currás-Freixes), Posted on August 12, 2015 by hqqu in Uncategorized
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome (Contributed by Marwan Shinawi, M.D.), Posted on August 11, 2015 by hqqu in Uncategorized
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses (Contributed by Sali Farhan), Posted on August 5, 2015 by hqqu in Uncategorized
Charcot–Marie–Tooth diseases: an update and some new proposals for the classification (Contributed by Dr. Stéphane Mathis), Posted on August 5, 2015 by hqqu in Uncategorized
Mutations in COQ4, an Essential Component of Coenzyme Q Biosynthesis, Cause Lethal Neonatal Mitochondrial Encephalomyopathy (Contributed by Marwan Shinawi, M.D.), Posted on July 16, 2015 by hqqu in Uncategorized
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans (Contributed by Dr. Niklas Dahl), Posted on July 3, 2015 by hqqu in Uncategorized
A CASQ1 founder mutation in 3 Italian families with protein aggregate myopathy and hyperCKaemia (Contributed by Dr. Marina Mora), Posted on July 1, 2015 by hqqu in Uncategorized
Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism (Contributed by Dr. David Carmody), Posted on June 22, 2015 by hqqu in Uncategorized
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid (Contributed by Dr. Christoph Freyer), Posted on June 17, 2015 by hqqu in Uncategorized
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde Pérez), Posted on June 16, 2015 by hqqu in Uncategorized

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