Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations, and clinical studies

por 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.
Publicado 2020

Metabolic co-essentiality mapping identifies c12orf49 as a regulator of SREBP processing and cholesterol metabolism

por Bayraktar, Erol C., La, Konnor, Karpman, Kara, Unlu, Gokhan, Ozerdem, Ceren, Ritter, Dylan J., Alwaseem, Hanan, Molina, Henrik, Hoffmann, Hans-Heinrich, Millner, Alec, Atilla-Gokcumen, G. Ekin, Gamazon, Eric R., Rushing, Amy R., Knapik, Ela W., Basu, Sumanta, Birsoy, Kıvanç
Publicado 2020