1. Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome. (2021) Authors: Frone, Megan N.; Stewart, Douglas R.; Savage, Sharon A.; Khincha, Payal P. Journal: JCO precision oncology Issue: Volume 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic. Issue 6 (18th April 2019) Authors: de Andrade, Kelvin C.; Frone, Megan N.; Wegman‐Ostrosky, Talia; Khincha, Payal P.; Kim, Jung; Amadou, Amina; Santiago, Karina M.; Fortes, Fernanda P.; Lemonnier, Nathanaël; Mirabello, Lisa; Stewart, Douglas R.; Hainaut, Pierre; Kowalski, Luiz P.; Savage, Sharon A.; Achatz, Maria I. Journal: Human mutation Issue: Volume 40:Issue 6(2019) Page Start: 832 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation. (29th March 2023) Authors: Hatton, Jessica N.; Frone, Megan N.; Cox, Hannah C.; Crowley, Stephanie B.; Hiraki, Susan; Yokoyama, Noriko N.; Abul-Husn, Noura S.; Amatruda, James F.; Anderson, Michael J.; Bofill-De Ros, Xavier; Carr, Ann G.; Chao, Elizabeth C.; Chen, Kenneth S.; Gu, Shuo; Higgs, Cecilia; Machado, Jerry; Ritte... Other Names: Chen Jian-Min Academic Editor. Journal: Human mutation Issue: Volume 2023(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Issue 3 (25th December 2020) Authors: Fortuno, Cristina; Lee, Kristy; Olivier, Magali; Pesaran, Tina; Mai, Phuong L.; de Andrade, Kelvin C.; Attardi, Laura D.; Crowley, Stephanie; Evans, D. Gareth; Feng, Bing‐Jian; Foreman, Ann K. M.; Frone, Megan N.; Huether, Robert; James, Paul A.; McGoldrick, Kelly; Mester, Jessica; Seifert, Bryce... Journal: Human mutation Issue: Volume 42:Issue 3(2021) Page Start: 223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis. Issue 1 (19th November 2018) Authors: de Andrade, Kelvin C.; Frone, Megan N.; Wegman‐Ostrosky, Talia; Khincha, Payal P.; Kim, Jung; Amadou, Amina; Santiago, Karina M.; Fortes, Fernanda P.; Lemonnier, Nathanaël; Mirabello, Lisa; Stewart, Douglas R.; Hainaut, Pierre; Kowalski, Luiz P.; Savage, Sharon A.; Achatz, Maria I. Journal: Human mutation Issue: Volume 40:Issue 1(2019) Page Start: 97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗