Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening

by Stuart, Bridget D., Choi, Jungmin, Zaidi, Samir, Xing, Chao, Holohan, Brody, Chen, Rui, Choi, Mihwa, Dharwadkar, Pooja, Torres, Fernando, Girod, Carlos E., Weissler, Jonathan, Fitzgerald, John, Kershaw, Corey, Klesney-Tait, Julia, Mageto, Yolanda, Shay, Jerry W., Ji, Weizhen, Bilguvar, Kaya, Mane, Shrikant, Lifton, Richard P., Garcia, Christine Kim
Published 2015

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

by Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D., Mane, Shrikant M., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A., Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W., Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P.
Published 2013

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

by Griesi-Oliveira, Karina, Acab, Allan, Gupta, Abha R., Sunaga, Daniele Yumi, Chailangkarn, Thanathom, Nicol, Xavier, Nunez, Yanelli, Walker, Michael F., Murdoch, John D., Sanders, Stephan J., Fernandez, Thomas V., Ji, Weizhen, Lifton, Richard P., Vadasz, Estevão, Dietrich, Alexander, Pradhan, Dennis, Song, Hongjun, Ming, Guo-li, Guoe, Xiang, Haddad, Gabriel, Marchetto, Maria C. N., Spitzer, Nicholas, Passos-Bueno, Maria Rita, State, Matthew W., Muotri, Alysson R.
Published 2014