Resultats de la cerca - Ozge Ceyhan‐Birsoy

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  1. 1
    Evolving Significance of Tumor-Normal Sequencing in Cancer Care

    Evolving Significance of Tumor-Normal Sequencing in Cancer Care per Diana Mandelker, Ozge Ceyhan‐Birsoy

    Publicat 2019
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  2. 2
    Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

    Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project per Kalotina Machini, Ozge Ceyhan‐Birsoy, Danielle R. Azzariti, Himanshu Sharma, Peter Rossetti, Lisa Mahanta, Laura Hutchinson, Heather M. McLaughlin, Robert C. Green, Matthew S. Lebo, Heidi L. Rehm

    Publicat 2019
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  3. 3
    A curated gene list for reporting results of newborn genomic sequencing

    A curated gene list for reporting results of newborn genomic sequencing per Ozge Ceyhan‐Birsoy, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Alan H. Beggs, Heidi L. Rehm

    Publicat 2017
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  4. 4
    Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

    Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes per Michael F. Walsh, Deborah Ritter, Chimene Kesserwan, Dmitriy Sonkin, Debyani Chakravarty, Elizabeth Chao, Rajarshi Ghosh, Yelena Kemel, Gang Wu, Kristy Lee, Shashikant Kulkarni, Dale J. Hedges, Diana Mandelker, Ozge Ceyhan‐Birsoy, Minjie Luo, Michael W. Drazer, Liying Zhang, Kenneth Offit, Sharon E. Plon

    Publicat 2018
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  5. 5
    Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations

    Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations per Diana Mandelker, Antonio Marra, Nikita Mehta, Pier Selenica, Zarina Yelskaya, Ciyu Yang, Joshua Somar, Miika Mehine, Maksym Misyura, Olca Baştürk, Alicia Latham, Maria I. Carlo, Michael F. Walsh, Zsofia K. Stadler, Kenneth Offit, Chaitanya Bandlamudi, Meera Hameed, Ping Chi, Jorge S. Reis‐Filho, Ozge Ceyhan‐Birsoy

    Publicat 2023
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  6. 6
    Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

    Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy per Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo, Klaus Schmitz‐Abe, Elizabeth T. DeChene, Lindsay C. Swanson, Rachel Soemedi, Nasim Vasli, Susan T. Iannaccone, Perry B. Shieh, Natasha Shur, Jane M. Dennison, Michael W. Lawlor, Jocelyn Laporte, Kyriacos Markianos, William G. Fairbrother, Henk Granzier, Alan H. Beggs

    Publicat 2013
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  7. 7
    A systematic approach to the reporting of medically relevant findings from whole genome sequencing

    A systematic approach to the reporting of medically relevant findings from whole genome sequencing per Heather M. McLaughlin, Ozge Ceyhan‐Birsoy, Kurt D. Christensen, Isaac S. Kohane, Joel B. Krier, William J. Lane, Denise Lautenbach, Matthew S. Lebo, Kalotina Machini, Calum A. MacRae, Danielle R. Azzariti, Michael F. Murray, Christine E. Seidman, Jason L. Vassy, Robert C. Green, Heidi L. Rehm

    Publicat 2014
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  8. 8
    Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

    Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project per Robert C. Green, Nidhi Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Melissa Kurtz Uveges, Ozge Ceyhan‐Birsoy, Matthew S. Lebo, Stacey Pereira, Pankaj B. Agrawal, Richard B. Parad, Amy L. McGuire, Kurt D. Christensen, Talia S. Schwartz, Heidi L. Rehm, Ingrid A. Holm, Alan H. Beggs

    Publicat 2023
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  9. 9
    Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing

    Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing per Panieh Terraf, Fresia Pareja, David Brown, Ozge Ceyhan‐Birsoy, Maksym Misyura, Satshil Rana, Eileen M. O’Reilly, Maria I. Carlo, Carol Aghajanian, Ying L. Liu, Fatemeh Derakhshan, Gowtham Jayakumaran, Britta Weigelt, Michael F. Walsh, Zsofia K. Stadler, Kenneth Offit, Marc Ladanyi, Mark E. Robson, Ahmet Zehir, Jorge S. Reis‐Filho, Diana Mandelker

    Publicat 2022
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  10. 10
    The BabySeq project: implementing genomic sequencing in newborns

    The BabySeq project: implementing genomic sequencing in newborns per 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, Robert C. Green, Alan H. Beggs

    Publicat 2018
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  11. 11
    Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients

    Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients per Ozge Ceyhan‐Birsoy, Gowtham Jayakumaran, Yelena Kemel, Maksym Misyura, Umut Aypar, Sowmya Jairam, Ciyu Yang, Yirong Li, Nikita Mehta, Anna Maio, Angela G. Arnold, Erin Salo‐Mullen, Margaret Sheehan, Aijazuddin Syed, Michael F. Walsh, Maria I. Carlo, Mark E. Robson, Kenneth Offit, Marc Ladanyi, Jorge S. Reis‐Filho, Zsofia K. Stadler, Liying Zhang, Alicia Latham, Ahmet Zehir, Diana Mandelker

    Publicat 2022
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  12. 12
    Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

    Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource per Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, Julianne O’Daniel, Erin M. Ramos, Avni Santani, Alan L. Scott, Sharon E. Plon, Heidi L. Rehm, Christa Lese Martin, Jonathan S. Berg

    Publicat 2017
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  13. 13
    Microsatellite Instability–High Endometrial Cancers with <i>MLH1</i> Promoter Hypermethylation Have Distinct Molecular and Clinical Profiles

    Microsatellite Instability–High Endometrial Cancers with <i>MLH1</i> Promoter Hypermethylation Have Distinct Molecular and Clinical Profiles per Beryl Manning‐Geist, Ying L. Liu, Kelly A. Devereaux, Arnaud Da Cruz Paula, Qin Zhou, Weining Ma, Pier Selenica, Ozge Ceyhan‐Birsoy, Lea A. Moukarzel, Timothy Hoang, Sushmita Gordhandas, Maria M. Rubinstein, Claire F. Friedman, Carol Aghajanian, Nadeem R. Abu‐Rustum, Zsofia K. Stadler, Jorge S. Reis‐Filho, Alexia Iasonos, Dmitriy Zamarin, Lora H. Ellenson, Yulia Lakhman, Diana Mandelker, Britta Weigelt

    Publicat 2022
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  14. 14
    Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

    Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project per Monica H. Wojcik, Tian Zhang, Ozge Ceyhan‐Birsoy, Casie A. Genetti, Matthew S. Lebo, Timothy W. Yu, Richard B. Parad, Ingrid A. Holm, Heidi L. Rehm, Alan H. Beggs, Robert C. Green, Pankaj B. Agrawal, Pankaj B. Agrawal, Alan H. Beggs, Wendi N. Betting, Ozge Ceyhan‐Birsoy, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Chet Graham, Robert C. Green, Amanda M. Guiterrez, Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany Nguyen, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy E. Roberts, Jill O. Robinson, S. A. Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu

    Publicat 2021
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  15. 15
    Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

    Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project per Ozge Ceyhan‐Birsoy, Jaclyn B. Murry, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Shawn Fayer, Casie A. Genetti, Talia S. Schwartz, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Heidi L. Rehm, Alan H. Beggs, Pankaj B. Agrawal, Alan H. Beggs, Wendi N. Betting, Ozge Ceyhan‐Birsoy, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Chet Graham, Robert C. Green, Amanda M. Guiterrez, Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany Nguyen, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy E. Roberts, Jill O. Robinson, S. A. Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu

    Publicat 2019
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  16. 16
    Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma

    Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma per Maria I. Carlo, Semanti Mukherjee, Diana Mandelker, Joseph Vijai, Yelena Kemel, Liying Zhang, Andrea Knežević, Sujata Patil, Ozge Ceyhan‐Birsoy, Kuo‐Cheng Huang, Almedina Redzematovic, Devyn Taylor Coskey, Carolyn Stewart, Nisha Pradhan, Angela G. Arnold, A. Ari Hakimi, Ying‐Bei Chen, Jonathan Coleman, David M. Hyman, Marc Ladanyi, Karen A. Cadoo, Michael F. Walsh, Zsofia K. Stadler, Chung‐Han Lee, Darren R. Feldman, Martin H. Voss, Mark E. Robson, Robert J. Motzer, Kenneth Offit

    Publicat 2018
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  17. 17
    Tumour lineage shapes BRCA-mediated phenotypes

    Tumour lineage shapes BRCA-mediated phenotypes per Philip Jonsson, Chaitanya Bandlamudi, Michael L. Cheng, Preethi Srinivasan, Shweta S. Chavan, Noah D. Friedman, Ezra Rosen, Allison L. Richards, Nancy Bouvier, S. Duygu Selçuklu, Craig M. Bielski, Wassim Abida, Diana Mandelker, Ozge Ceyhan‐Birsoy, Liying Zhang, Ahmet Zehir, Mark T.A. Donoghue, José Baselga, Kenneth Offit, Howard I. Scher, Eileen M. O’Reilly, Zsofia K. Stadler, Nikolaus Schultz, Nicholas D. Socci, Agnès Viale, Marc Ladanyi, Mark E. Robson, David M. Hyman, Michael F. Berger, David B. Solit, Barry S. Taylor

    Publicat 2019
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  18. 18
    Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma

    Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma per Diana Mandelker, Antonio Marra, Binbin Zheng-Lin, Pier Selenica, Juan Blanco-Heredia, Yingjie Zhu, Andrea Gazzo, Donna Wong, Zarina Yelskaya, Vikas Rai, Joshua Somar, Silvana Ostafi, Nikita Mehta, Ciyu Yang, Yirong Li, David Brown, Edaise M. da Silva, Xin Pei, Irina Linkov, Panieh Terraf, Maksym Misyura, Ozge Ceyhan‐Birsoy, Marc Ladanyi, Michael F. Berger, Fresia Pareja, Zsofia K. Stadler, Kenneth Offit, Nadeem Riaz, Wungki Park, Joanne F. Chou, Marinela Capanu, María Koehler, Ezra Rosen, Eileen M. O’Reilly, Jorge S. Reis‐Filho

    Publicat 2023
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  19. 19
    Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms

    Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms per Benjamin H. Durham, Estibaliz Lopez Rodrigo, Jennifer Picarsic, David H. Abramson, Veronica Rotemberg, Steven De Munck, Erwin Pannecoucke, Sydney X. Lu, Alessandro Pastore, Akihide Yoshimi, Diana Mandelker, Ozge Ceyhan‐Birsoy, Gary A. Ulaner, Michael F. Walsh, Mariko Yabe, Kseniya Petrova‐Drus, Maria E. Arcila, Marc Ladanyi, David B. Solit, Michael F. Berger, David M. Hyman, Mario E. Lacouture, Caroline Erickson, Ruth Saganty, Michelle Ki, Ira J. Dunkel, Vicente Santa‐María López, Jaume Mora, Julien Haroche, Jean‐François Emile, Olivier Decaux, Frédéric Geissmann, Savvas N. Savvides, Alexander Drilon, Eli L. Diamond, Omar Abdel‐Wahab

    Publicat 2019
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  20. 20
    Cancer Susceptibility Mutations in Patients With Urothelial Malignancies

    Cancer Susceptibility Mutations in Patients With Urothelial Malignancies per Maria I. Carlo, Vignesh Ravichandran, Preethi Srinavasan, Chaitanya Bandlamudi, Yelena Kemel, Ozge Ceyhan‐Birsoy, Semanti Mukherjee, Diana Mandelker, Joshua Chaim, Andrea Knežević, Satshil Rana, Zarina Fnu, Kelsey Breen, Angela G. Arnold, Aliya Khurram, Kaitlyn Tkachuk, C Cipolla, Ashley Marie Regazzi, A. Ari Hakimi, Hikmat Al‐Ahmadie, Guido Dalbagni, Karen A. Cadoo, Michael F. Walsh, Min Yuen Teo, Samuel A. Funt, Jonathan Coleman, Bernard H. Bochner, Gopa Iyer, David B. Solit, Zsofia K. Stadler, Liying Zhang, Jonathan E. Rosenberg, Barry S. Taylor, Mark E. Robson, Michael F. Berger, Joseph Vijai, Dean F. Bajorin, Kenneth Offit

    Publicat 2019
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