Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1

por Flores Daboub, Josue A., Grimmer, Johanes Fred, Frigerio, Alice, Wooderchak-Donahue, Whitney, Arnold, Ryan, Szymanski, Jeff, Longo, Nicola, Bayrak-Toydemir, Pinar
Publicado 2020

A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies

por Geilmann, Shelby, Solstad, Rachel, Palmquist, Rachel, Flores Daboub, Josue, Botto, Lorenzo D., Grubb, Peter H., Bonkowsky, Josh L., Longo, Nicola, Malone Jenkins, Sabrina
Publicado 2023

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

por Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T., Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J., Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W., Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna
Publicado 2019