Copa Syndrome: A Novel Autosomal Dominant Immune Dysregulatory Disease

Por Vece, Timothy J., Watkin, Levi B., Nicholas, Sarah, Canter, Debra, Braun, Michael C., Guillerman, R. Paul, Eldin, Karen W., Bertolet, Grant, McKinley, Scott, de Guzman, Marietta, Forbes, Lisa, Chinn, Ivan, Orange, Jordan S.
Publicado no J Clin Immunol (2016)

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

Por Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.
Publicado no Am J Hum Genet (2018)