The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

由 Turvey, Stuart E, Durandy, Anne, Fischer, Alain, Fung, Shan-Yu, Geha, Raif S., Gewies, Andreas, Giese, Thomas, Greil, Johann, Keller, Bärbel, McKinnon, Margaret L, Neven, Bénédicte, Rozmus, Jacob, Ruland, Jürgen, Snow, Andrew L., Stepensky, Polina, Warnatz, Klaus
出版 2014

Growth Hormone Deficiency in MCAP: An Association with Activating Mutations in PIK3CA

由 Davis, Shanlee, Ware, Meredith A., Zeiger, Jordan, Deardorff, Matthew A., Grand, Katheryn, Grimberg, Adda, Hsu, Stephanie, Kelsey, Megan, Majidi, Shideh, Mathew, Revi P., Napier, Melanie, Nokoff, Natalie, Prasad, Chitra, Riggs, Andrew C., McKinnon, Margaret L., Mirzaa, Ghayda
發表在 Am J Med Genet A (2019)

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

由 Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos‐Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.
發表在 Hum Mutat (2016)