Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function

por Kumar, Lalit, Chou, Janet, Yee, Christina S.K., Borzutzky, Arturo, Vollmann, Elisabeth H., von Andrian, Ulrich H., Park, Shin-Young, Hollander, Georg, Manis, John P., Poliani, P. Luigi, Geha, Raif S.
Publicado 2014

Expanded genetic insight and clinical experience of DNMT1-complex disorder

por Bi, Hongyan, Hojo, Kaori, Watanabe, Masashi, Yee, Christina, Maski, Kiran, Saba, Sadaf, Graff-Radford, Jonathan, Machulda, Mary M., St Louis, Erik K., Humes, Ilona Spitsyna, Flanagan, Eoin P., Nicolau, Stefan, Jones, David T., Patterson, Marc C., Kotagal, Suresh, Raz, Yael, Niu, Zhiyv, Li, Jun, Klein, Christopher J.
Publicado 2020

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

por Li, Qifei, Dibus, Michal, Casey, Alicia, Yee, Christina S. K., Vargas, Sara O., Luo, Shiyu, Rosen, Samantha M., Madden, Jill A., Genetti, Casie A., Brabek, Jan, Brownstein, Catherine A., Kazerounian, Shideh, Raby, Benjamin A., Schmitz-Abe, Klaus, Kennedy, John C., Fishman, Martha P., Mullen, Mary P., Taylor, Joan M., Rosel, Daniel, Agrawal, Pankaj B.
Publicado 2021