Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies
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.
Published in Nature medicine (01.01.2020)
Published in Nature medicine (01.01.2020)
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Journal Article
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish
Unlu, Gokhan, Gamazon, Eric R., Qi, Xinzi, Levic, Daniel S., Bastarache, Lisa, Denny, Joshua C., Roden, Dan M., Mayzus, Ilya, Breyer, Max, Zhong, Xue, Konkashbaev, Anuar I., Rzhetsky, Andrey, Knapik, Ela W., Cox, Nancy J.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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