Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome

Por Chen, Hannah Jinlian, Romigh, Todd, Sesock, Kaitlin, Eng, Charis
Publicado no Hum Mutat (2017)

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations

Por Yehia, Lamis, Ni, Ying, Sesock, Kaitlin, Niazi, Farshad, Fletcher, Benjamin, Chen, Hannah Jin Lian, LaFramboise, Thomas, Eng, Charis
Publicado no PLoS Genet (2018)

Gene-Specific Criteria for PTEN Variant Curation: Recommendations from the ClinGen PTEN Expert Panel

Por Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz-Sloan, Jill, Sesock, Kaitlin, Hernandez, Felicia, Zhang, Liying, Milko, Laura, Plon, Sharon E., Hegde, Madhuri, Eng, Charis
Publicado no Hum Mutat (2018)