Article
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
Nature medicine - 1 Jan 2020
Unlu Gokhan, Qi Xinzi, Gamazon Eric R, Melville David B, Patel Nisha, Rushing Amy R, Hashem Mais, Al-Faifi Abdullah, Chen Rui, Li Bingshan, Cox Nancy J, Alkuraya Fowzan S, Knapik Ela W
Abstract excerpt
Discovery of genotype-phenotype relationships remains a major challenge in clinical medicine. Here, we combined three sources of phenotypic data to uncover a new mechanism for rare and common diseases resulting from collagen secretion deficits. Using a zebrafish genetic screen, we identified the ric1 gene as being essential for skeletal biology. Using a gene-based phenome-wide association study (PheWAS) in the...
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