Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

por Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk
Publicado 2015

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

por Breen, Kelsey E., Carlo, Maria I., Kemel, Yelena, Maio, Anna, Chen, Ying‐Bei, Zhang, Liying, Ceyhan‐Birsoy, Ozge, Mandelker, Diana
Publicado 2020

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

por Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.
Publicado 2015

The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers

por Mandelker, Diana, Kumar, Rahul, Pei, Xin, Selenica, Pier, Setton, Jeremy, Arunachalam, Sasi, Ceyhan-Birsoy, Ozge, Brown, David N, Norton, Larry, Robson, Mark E, Wen, Hannah Y, Powell, Simon, Riaz, Nadeem, Weigelt, Britta, Reis-Filho, Jorge S
Publicado 2019

Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors

por Walsh, Michael F., Sacca, Rosalba, Wildman, Temima, Amoroso, Kimberly, Kennedy, Jennifer, Zhang, Liying, Birsoy, Ozge, Mandelker, Diana, Steinsnyder, Zoe, Latham, Alicia, Carlo, Maria I., Cadoo, Karen, Kemel, Yelena, Robson, Mark, Stadler, Zsofia K., Offit, Kenneth
Publicado 2019

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

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

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

por McLaughlin, Heather M, Ceyhan-Birsoy, Ozge, Christensen, Kurt D, Kohane, Isaac S, Krier, Joel, Lane, William J, Lautenbach, Denise, Lebo, Matthew S, Machini, Kalotina, MacRae, Calum A, Azzariti, Danielle R, Murray, Michael F, Seidman, Christine E, Vassy, Jason L, Green, Robert C, Rehm, Heidi L
Publicado 2014

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

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

Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of “Second Hit” in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma

por Zheng-Lin, Binbin, Rainone, Michael, Varghese, Anna M., Yu, Kenneth H., Park, Wungki, Berger, Michael, Mehine, Miika, Chou, Joanne, Capanu, Marinela, Mandelker, Diana, Stadler, Zsofia K., Birsoy, Ozge, Jairam, Sowmya, Yang, Ciyu, Li, Yirong, Wong, Donna, Benhamida, Jamal K, Ladanyi, Marc, Zhang, Liying, O’Reilly, Eileen M.
Publicado 2022

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report

por Murry, Jaclyn B., Machini, Kalotina, Ceyhan-Birsoy, Ozge, Kritzer, Amy, Krier, Joel B., Lebo, Matthew S., Fayer, Shawn, Genetti, Casie A., VanNoy, Grace E., Yu, Timothy W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy L., Green, Robert C., Beggs, Alan H., Rehm, Heidi L.
Publicado 2018

ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications

por El Jabbour, Tony, Misyura, Maksym, Cowzer, Darren, Zimmermann, Michal, Rimkunas, Victoria, Marra, Antonio, Derakhshan, Fatemeh, Selenica, Pier, Parilla, Megan, Setton, Jeremy S, Ceyhan-Birsoy, Ozge, Kemel, Yelena, Catchings, Amanda, Ranganathan, Megha, Ku, Geoffrey Y, Janjigian, Yelena Y, Zinda, Michael, Koehler, Maria, Stadler, Zsofia, Shia, Jinru, Reis-Filho, Jorge S, Mandelker, Diana
Publicado 2022

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

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

The BabySeq project: implementing genomic sequencing in newborns

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

Germline SDHA mutations in children and adults with cancer

por Dubard Gault, Marianne, Mandelker, Diana, DeLair, Deborah, Stewart, Carolyn R., Kemel, Yelena, Sheehan, Margaret R., Siegel, Beth, Kennedy, Jennifer, Marcell, Vanessa, Arnold, Angela, Al-Ahmadie, Hikmat, Modak, Shakeel, Robson, Mark, Shukla, Neerav, Roberts, Stephen, Vijai, Joseph, Topka, Sabine, Kentsis, Alex, Cadoo, Karen, Carlo, Maria, Latham Schwark, Alicia, Reznik, Ed, Dinatale, Renzo, Hechtman, Jaclyn, Borras Flores, Ester, Jairam, Sowmaya, Yang, Ciyu, Li, Yirong, Bayraktar, Erol Can, Ceyhan-Birsoy, Ozge, Zhang, Liying, Kohlman, Wendy, Schiffman, Joshua, Stadler, Zsofia, Birsoy, Kivanc, Kung, Andrew, Offit, Kenneth, Walsh, Michael F.
Publicado 2018

Activating mutations in CSF-1R and additional receptor tyrosine kinases in histiocytic neoplasms

por Durham, Benjamin H., Rodrigo, Estibaliz Lopez, Picarsic, Jennifer, Abramson, David, Rotemberg, Veronica, De Munck, Steven, Pannecoucke, Erwin, Lu, Sydney X., Pastore, Alessandro, Yoshimi, Akihide, Mandelker, Diana, Ceyhan-Birsoy, Ozge, Ulaner, Gary A., Walsh, Michael, Yabe, Mariko, Petrova-Drus, Kseniya, Arcila, Maria E., Ladanyi, Marc, Solit, David B., Berger, Michael F., Hyman, David M., Lacouture, Mario E., Erickson, Caroline, Saganty, Ruth, Ki, Michelle, Dunkel, Ira J., López, Vicente Santa-María, Mora, Jaume, Haroche, Julien, Emile, Jean-Francois, Decaux, Olivier, Geissmann, Frederic, Savvides, Savvas N., Drilon, Alexander, Diamond, Eli L., Abdel-Wahab, Omar
Publicado 2019

The context-specific role of germline pathogenicity in tumorigenesis

por Srinivasan, Preethi, Bandlamudi, Chaitanya, Jonsson, Philip, Kemel, Yelena, Chavan, Shweta S., Richards, Allison L., Penson, Alexander V., Bielski, Craig M., Fong, Christopher, Syed, Aijazuddin, Jayakumaran, Gowtham, Prasad, Meera, Hwee, Jason, Sumer, Selcuk Onur, de Bruijn, Ino, Li, Xiang, Gao, JianJiong, Schultz, Nikolaus, Cambria, Roy, Galle, Jesse, Mukherjee, Semanti, Vijai, Joseph, Cadoo, Karen A., Carlo, Maria I., Walsh, Michael F., Mandelker, Diana, Ceyhan-Birsoy, Ozge, Shia, Jinru, Zehir, Ahmet, Ladanyi, Marc, Hyman, David M., Zhang, Liying, Offit, Kenneth, Robson, Mark E., Solit, David B., Stadler, Zsofia K., Berger, Michael F., Taylor, Barry S.
Publicado 2021