Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome

by Kelsey E. Breen, Maria I. Carlo, Yelena Kemel, Anna Maio, Ying‐Bei Chen, Liying Zhang, Ozge Ceyhan‐Birsoy, Diana Mandelker
Published 2020-08-01

Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations

by Diana Mandelker, Antonio Marra, Nikita Mehta, Pier Selenica, Zarina Yelskaya, Ciyu Yang, Joshua Somar, Miika Mehine, Maksym Misyura, Olca Basturk, Alicia Latham, Maria Carlo, Michael Walsh, Zsofia K. Stadler, Kenneth Offit, Chaitanya Bandlamudi, Meera Hameed, Ping Chi, Jorge S. Reis-Filho, Ozge Ceyhan-Birsoy
Published 2023-01-01

Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination

by Jeremy Setton, Pier Selenica, Semanti Mukherjee, Rachna Shah, Isabella Pecorari, Biko McMillan, Isaac X. Pei, Yelena Kemel, Ozge Ceyhan-Birsoy, Margaret Sheehan, Kaitlyn Tkachuk, David N. Brown, Liying Zhang, Karen Cadoo, Simon Powell, Britta Weigelt, Mark Robson, Nadeem Riaz, Kenneth Offit, Jorge S. Reis-Filho, Diana Mandelker
Published 2021-10-01

Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients

by Ozge Ceyhan-Birsoy, Gowtham Jayakumaran, Yelena Kemel, Maksym Misyura, Umut Aypar, Sowmya Jairam, Ciyu Yang, Yirong Li, Nikita Mehta, Anna Maio, Angela Arnold, Erin Salo-Mullen, Margaret Sheehan, Aijazuddin Syed, Michael Walsh, Maria Carlo, Mark Robson, Kenneth Offit, Marc Ladanyi, Jorge S. Reis-Filho, Zsofia K. Stadler, Liying Zhang, Alicia Latham, Ahmet Zehir, Diana Mandelker
Published 2022-08-01

The BabySeq project: implementing genomic sequencing in newborns

by Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs
Published 2018-07-01

P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*

by Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Published 2023-01-01

Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings

by Ozge Ceyhan-Birsoy, Elise Fiala, Satshil Rana, Margaret Sheehan, Jennifer Kennedy, Zarina Yelskaya, Vikas Rai, Yirong Li, Ciyu Yang, Donna Wong, Ivelise Rijo, Jacklyn Casanova, Joshua Somar, Nikita Mehta, Hyeonjin Park, Silvana Ostafi, Kanika Arora, Angelika Padunan, Mark D. Ewalt, Umut Aypar, Panieh Terraf, Maksym Misyura, Sofia Haque, Gerald G. Behr, Tamanna Haque, Maria Sulis, Mark B. Geyer, Christopher Forlenza, Meghan C. Thompson, Maria Carlo, Alicia Latham, Ying Liu, Ahmet Zehir, Rose Brannon, Michael Berger, Luis A Diaz Jr, Ahmet Dogan, Marc Ladanyi, Kseniya Petrova-Drus, Khedoudja Nafa, Kenneth Offit, Maria Arcila, Zsofia K. Stadler, Michael F. Walsh, Diana Mandelker
Published 2024-04-01