Search Results - "Birsoy, Ozge"

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

“…In its landmark paper about Standards and Guidelines for the Interpretation of Sequence Variants, the American College of Medical Genetics and Genomics (ACMG),…”
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NGS testing for cardiomyopathy: Utility of adding RASopathy‐associated genes by Ceyhan‐Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason‐Suares, Heather

“…RASopathies include a group of syndromes caused by pathogenic germline variants in RAS‐MAPK pathway genes and typically present with facial dysmorphology,…”
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A Clinical Approach to Detecting Germline Pathogenic Variants From Tumor-Only Sequencing by Ceyhan-Birsoy PhD, Ozge, Misyura, Maksym, Mandelker, Diana

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O12: Clonal hematopoiesis-related variants confounding hereditary cancer testing: Results from matched tumor-normal sequencing of 26,329 cancer patients by Birsoy, Ozge, Rema, Anoop Balakrishnan, Rana, Satshil, Brannon, Rose, Syed, Aijazuddin, Mandelker, Diana

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

“…With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these…”
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Targeted therapy based on germline analysis of tumor-normal sequencing (MSK-IMPACT) in a pan-cancer population by Stadler, Zsofia Kinga, Maio, Anna, Kemel, Yelena, Sheehan, Margaret, Salo-Mullen, Erin E., Cadoo, Karen Anne, Carlo, Maria Isabel, Latham, Alicia, Walsh, Michael Francis, Drilon, Alexander E., Berger, Michael F., Solit, David B., Birsoy, Ozge, Mandelker, Diana, Diaz, Luis A., Offit, Kenneth, Robson, Mark E.

“…Abstract only 1500 Background: Tumor mutational profiling for identification of somatic alterations for targeted treatment is increasingly being performed in…”
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Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination by 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

“…Pathogenic germline mutations in the RAD51 paralog genes RAD51C and RAD51D , are known to confer susceptibility to ovarian and triple-negative breast cancer…”
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A curated gene list for reporting results of newborn genomic sequencing by Ceyhan-Birsoy, Ozge, Machini, Kalotina, Lebo, Matthew S., Yu, Tim W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy, Green, Robert C., Beggs, Alan H., Rehm, Heidi L.

“…Purpose: Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major…”
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy by Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.

“…OBJECTIVE:To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in…”
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The BabySeq project: implementing genomic sequencing in newborns by 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

“…The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The "BabySeq Project" is a randomized trial that explores the…”
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Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies by 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.

“…Background Diagnostic testing for genetic cardiomyopathies has undergone dramatic changes in the last decade with next generation sequencing (NGS) expanding…”
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Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome by Breen, Kelsey E., Carlo, Maria I., Kemel, Yelena, Maio, Anna, Chen, Ying‐Bei, Zhang, Liying, Ceyhan‐Birsoy, Ozge, Mandelker, Diana

“…Background Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC), caused by heterozygous germline pathogenic variants in the FH, confers an…”
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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients by 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

“…Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type…”
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Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations by 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

“…Traditional genetic testing for patients with gastrointestinal stromal tumors (GISTs) focus on those with syndromic features. To assess whether expanded…”
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Germline Testing for the Evaluation of Hereditary Cancer Predisposition by Ceyhan-Birsoy, Ozge

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P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies by DiStefano, Marina, Webb, Ryan, McCurry, Hannah, McNulty Gray, Shannon, Tomar, Swati, Kopparapu, Prasad, Broeren, Eleanor, Tshering, Kezang, Beggs, Alan, Bertini, Enrico Silvio, D'Amico, Adele, Donkervoort, Sandra, Dowling, James, Fattori, Fabiana, Ferreiro, Ana, Genetti, Casie, Gonorazky, Hernan, Gorokhova, Svetlana, Lindy, Amanda, Medne, Livija, Pajusalu, Sander, Pelin, Katarina, Rendu, John, Vatta, Matteo, Winder, Tom, Yang, Hui, Yoon, Grace, Ceyhan-Birsoy, Ozge, Bönnemann, Carsten

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

“…Molecular tests assist at various stages of cancer patient management, including providing diagnosis, predicting prognosis, identifying therapeutic targets,…”
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Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies by Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina

“…ABSTRACT Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core‐rod myopathy, congenital…”
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Tumour lineage shapes BRCA-mediated phenotypes by Jonsson, Philip, Bandlamudi, Chaitanya, Cheng, Michael L., Srinivasan, Preethi, Chavan, Shweta S., Friedman, Noah D., Rosen, Ezra Y., Richards, Allison L., Bouvier, Nancy, Selcuklu, S. Duygu, Bielski, Craig M., Abida, Wassim, Mandelker, Diana, Birsoy, Ozge, Zhang, Liying, Zehir, Ahmet, Donoghue, Mark T. A., Baselga, José, Offit, Kenneth, Scher, Howard I., O’Reilly, Eileen M., Stadler, Zsofia K., Schultz, Nikolaus, Socci, Nicholas D., Viale, Agnes, Ladanyi, Marc, Robson, Mark E., Hyman, David M., Berger, Michael F., Solit, David B., Taylor, Barry S.

“…Mutations in BRCA1 and BRCA2 predispose individuals to certain cancers 1 – 3 , and disease-specific screening and preventative strategies have reduced cancer…”
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Therapeutic Implications of Germline Testing in Patients With Advanced Cancers by Stadler, Zsofia K, Maio, Anna, Chakravarty, Debyani, Kemel, Yelena, Sheehan, Margaret, Salo-Mullen, Erin, Tkachuk, Kaitlyn, Fong, Christopher J, Nguyen, Bastien, Erakky, Amanda, Cadoo, Karen, Liu, Ying, Carlo, Maria I, Latham, Alicia, Zhang, Hongxin, Kundra, Ritika, Smith, Shaleigh, Galle, Jesse, Aghajanian, Carol, Abu-Rustum, Nadeem, Varghese, Anna, O'Reilly, Eileen M, Morris, Michael, Abida, Wassim, Walsh, Michael, Drilon, Alexander, Jayakumaran, Gowtham, Zehir, Ahmet, Ladanyi, Marc, Ceyhan-Birsoy, Ozge, Solit, David B, Schultz, Nikolaus, Berger, Michael F, Mandelker, Diana, Diaz, Jr, Luis A, Offit, Kenneth, Robson, Mark E

“…Tumor mutational profiling is increasingly performed in patients with advanced cancer. We determined the extent to which germline mutation profiling guides…”
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