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Breen KE; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mehta N; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ravichandran V; Marie-Josee and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mehine M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Gao C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Fiala E; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mukherjee S; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Gao M; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Arora K; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Kemel Y; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Roth S; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Arnold AG; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Kennedy J; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Sheehan M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Murphy F; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ptashkin R; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Lin A; Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Walsh M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Tap WD; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Rolston V; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Murciano-Goroff YR; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Latham A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Stadler ZK; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Offit K; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mandelker D; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. mandelkd@mskcc.org.

Publisher: Springer Nature Country of Publication: England NLM ID: 101708166 Publication Model: Electronic Cited Medium: Print ISSN: 2397-768X (Print) Linking ISSN: 2397768X NLM ISO Abbreviation: NPJ Precis Oncol Subsets: PubMed not MEDLINE

Ross JE; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Flowers M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; McNulty S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Patel M; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yang H; GeneDx, Gaithersburg, MD, USA.; Palus B; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Abdelmoneim Elnagheeb M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Eng L; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Owens E; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.; Dowling J; Division of Neurology, Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada.; Fattori F; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Ferreiro A; Basic and Translational Myology Laboratory, Université de Paris, Paris, France.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Gonorazky H; Basic and Translational Myology Laboratory, Université de Paris, Paris, France.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, USA.; Lindy A; GeneDx, Gaithersburg, MD, USA.; Medne L; Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, USA.; Muntoni F; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.; Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, USA.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Pelin K; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.; Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Sarkozy A; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.; Vatta M; Labcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, CA, USA.; Winder T; Labcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, CA, USA.; Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.; Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Gao C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Patel J; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Robbins M; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.; Gedvilaite E; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Bowman AS; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Arora K; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Vanderbilt C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Brannon AR; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Friedman DN; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.; Kennedy J; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Fiala E; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Dunkel IJ; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.; Weigelt B; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Francis JH; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Ophthalmology, Weill Cornell Medical Center, New York, New York.; Reis-Filho JS; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Cancer Biomarker Development, Oncology Research and Development, AstraZeneca, Gaithersburg, Maryland.; Abramson DH; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Ophthalmology, Weill Cornell Medical Center, New York, New York.; Mandelker D; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

Terraf, P.; Pareja, F.; Brown, D. N.; Ceyhan-Birsoy, O.; Misyura, M.; Rana, S.; O’Reilly, E.; Carlo, M. I.; Aghajanian, C.; Liu, Y.; Derakhshan, F.; Jayakumaran, G.; Weigelt, B.; Walsh, M.; Stadler, Z.; Offit, K.; Ladanyi, M.; Robson, M.; Zehir, A.; Reis-Filho, J. S.; Mandelker, D.

Ann Oncol

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; Wendi N. Betting; Kurt D. Christensen; Dmitry Dukhovny; Shawn Fayer; Leslie A. Frankel; Chet Graham; Amanda M. Guiterrez; Maegan Harden; Joel B. Krier; Harvey L. Levy; Xingquan Lu; Kalotina Machini; Amy L. McGuire; Jaclyn B. Murry; Medha Naik; Tiffany T. Nguyen; Hayley A. Peoples; Stacey Pereira; Devan Petersen; Uma Ramamurthy; Vivek Ramanathan; Amy Roberts; Jill O. Robinson; Serguei Roumiantsev; Talia S. Schwartz; Tina K. Truong; Grace E. VanNoy; Susan E. Waisbren

Genetics in Medicine. 23:1372-1375

Mackay, Zoë P; Dukhovny, Dmitry; Phillips, Kathryn A; Beggs, Alan H; Green, Robert C; Parad, Richard B; Christensen, Kurt D; Team, BabySeq Project; Agrawal, Pankaj B; Ceyhan-Birsoy, Ozge; Fayer, Shawn; Frankel, Leslie A; Genetti, Casie A; Gutierrez, Amanda M; Harden, Maegan; Holm, Ingrid A; Krier, Joel B; Lebo, Matthew S; Machini, Kalotina; McGuire, Amy L; Naik, Medha; Nguyen, Tiffany T; Pereira, Stacey; Ramanathan, Vivek; Rehm, Heidi L; Roberts, Amy; Robinson, Jill O; Roumiantsev, Sergei; Schwartz, Talia S; Truong, Tina K; VanNoy, Grace E; Waisbren, Susan E; Yu, Timothy W

Value in Health, vol 23, iss 5

Bates, David W.; Blout, Carrie; Christensen, Kurt D.; Cirino, Allison L.; Ho, Carolyn Y.; Krier, Joel B.; Lehmann, Lisa S.; MacRae, Calum A.; Morton, Cynthia C.; Perry, Denise L.; Seidman, Christine E.; Sunyaev, Shamil R.; Vassy, Jason L.; Schonman, Erica; Nguyen, Tiffany; Steffens, Eleanor; Betting, Wendi Nicole; Aronson, Samuel J.; Ceyhan-Birsoy, Ozge; Machini, Kalotina; McLaughlin, Heather M.; Azzariti, Danielle R.; Tsai, Ellen A.; Blumenthal-Barby, Jennifer; Feuerman, Lindsay Z.; McGuire, Amy L.; Lee, Kaitlyn; Robinson, Jill O.; Slashinski, Melody J.; Diamond, Pamela M.; Davis, Kelly; Ubel, Peter A.; Kraft, Peter; Roberts, J. Scott; Garber, Judy E.; Hambuch, Tina; Murray, Michael F.; Kohane, Isaac; Kong, Sek Won; Lane, William J ; Westhoff, Connie M ; Gleadall, Nicholas S ; Aguad, Maria ; Smeland-Wagman, Robin ; Vege, Sunitha ; Simmons, Daimon P ; Mah, Helen H ; Lebo, Matthew S ; Walter, Klaudia ; Soranzo, Nicole ; Di Angelantonio, Emanuele ; Danesh, John ; Roberts, David J ; Watkins, Nick A ; Ouwehand, Willem H ; Butterworth, Adam S ; Kaufman, Richard M ; Rehm, Heidi L ; Silberstein, Leslie E ; Green, Robert C

In The Lancet Haematology June 2018 5(6):e241-e251

Banaszak LG; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Fiala E; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Khurram A; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Kemel YM; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Walsh MF; Regeneron, New York, New York, USA.; Liu Y; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA.; Carlo M; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA.; Latham A; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA.; Murciano-Goroff YR; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA.; Abbass MA; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Colorectal Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Berger M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Petrini JHJ; Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Mandelker D; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Offit K; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA.; Stadler ZK; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Genetti, Casie A. ; Schwartz, Talia S. ; Robinson, Jill O. ; VanNoy, Grace E. ; Petersen, Devan ; Pereira, Stacey ; Fayer, Shawn ; Peoples, Hayley A. ; Agrawal, Pankaj B. ; Betting, Wendi N. ; Holm, Ingrid A. ; McGuire, Amy L. ; Waisbren, Susan E. ; Yu, Timothy W. ; Green, Robert C. ; Beggs, Alan H. ; Parad, Richard B. ; Ceyhan-Birsoy, Ozge; Christensen, Kurt D.; Dukhovny, Dmitry; Frankel, Leslie A.; Graham, Chet; Gutierrez, Amanda M.; Harden, Maegan; Krier, Joel B.; Lebo, Matthew S.; Levy, Harvey L.; Lu, Xingquan; Machini, Kalotina; Murry, Jaclyn B.; Naik, Medha; Nguyen, Tiffany T.; Ramamurthy, Uma; Ramanathan, Vivek; Rehm, Heidi L.; Roberts, Amy; Roumiantsev, Serguei; Truong, Tina K.

In Genetics in Medicine March 2019 21(3):622-630

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

In The American Journal of Human Genetics 3 January 2019 104(1):76-93

Ozer, Muhammet; Ranganathan, Megha; Lecomte, Nicolas; Schvartzman, Juan M.; Walch, Henry S.; Chatila, Walid K.; Hong, Jungeui; Carlo, Maria I.; Walsh, Michael F.; Sheehan, Margaret; Mandelker, Diana; Ceyhan-Birsoy, Ozge; Maio, Anna; Kemel, Yelena; Iacobuzio-Donahue, Christine A.; OʼReilly, Eileen M.; Yu, Kenneth H.

JCO Precision Oncology. Jun 01, 2022 6:e2100560-e2100560

A. Safonov; M. Mehine; O. Ceyhan-Birsoy; D. Brown; C. Bandlamudi; A. Forbes; A. Gazzo; P. Selenica; R. Shen; E. Khurana; L. Norton; D. Solit; S. Chandarlapaty; P. Razavi; M. Robson; B. Weigelt; M. Berger; M. Ladanyi; J.S. Reis-Filho; D. Mandelker

Annals of Oncology. 34:S1149

Mandelker D; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Marra A; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mehta N; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Selenica P; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Yelskaya Z; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Yang C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Somar J; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mehine M; Marie-Josee and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Misyura M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Basturk O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Latham A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Carlo M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Walsh M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Stadler ZK; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Offit K; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Bandlamudi C; Marie-Josee and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Hameed M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Chi P; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Reis-Filho JS; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. reisfilj@mskcc.org.; Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. birsoyo@mskcc.org.

Publisher: Springer Nature Country of Publication: England NLM ID: 101708166 Publication Model: Electronic Cited Medium: Print ISSN: 2397-768X (Print) Linking ISSN: 2397768X NLM ISO Abbreviation: NPJ Precis Oncol Subsets: PubMed not MEDLINE

Gordhandas S; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Rios-Doria E; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Cadoo KA; St. James's Hospital, Trinity St. James's Cancer Institute, Dublin, Ireland.; Catchings A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Maio A; Sloan Kettering Institute, New York, NY, USA.; Kemel Y; Sloan Kettering Institute, New York, NY, USA.; Sheehan M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ranganathan M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Green D; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Aryamvally A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Arnold AG; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Salo-Mullen E; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Manning-Geist B; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Sia T; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Selenica P; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Da Cruz Paula A; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Vanderbilt C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Misyura M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Leitao MM; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.; Mueller JJ; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.; Makker V; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Rubinstein M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Friedman CF; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Zhou Q; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Iasonos A; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Latham A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; 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Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Berger MF; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Robson ME; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Abu-Rustum N; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.; Aghajanian C; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Offit K; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Stadler Z; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Weigelt B; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mandelker DL; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Liu YL; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE

Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Fiala E; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY.; Rana S; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Sheehan M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Kennedy J; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Yelskaya Z; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Rai V; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Li Y; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Yang C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Wong D; 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Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

El Jabbour T; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Misyura M; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Cowzer D; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Zimmermann M; Repare Therapeutics, St. Laurent, QC, Canada.; Rimkunas V; Repare Therapeutics, Cambridge, MA, USA.; Marra A; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Derakhshan F; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Selenica P; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Parilla M; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Setton JS; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Kemel Y; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Catchings A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ranganathan M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ku GY; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Janjigian YY; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Zinda M; Repare Therapeutics, Cambridge, MA, USA.; Koehler M; Repare Therapeutics, Cambridge, MA, USA.; Stadler Z; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Shia J; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Reis-Filho JS; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mandelker D; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE

Zukosky, Kristen; Meilleur, Katherine; Traynor, Bryan J.; Dastgir, Jahannaz; Medne, Livija; Devoto, Marcella; Collins, James; Rooney, Jachinta; Zou, Yaqun; Yang, Michele L.; Gibbs, J. Raphael; Meier, Markus; Stetefeld, Joerg; Finkel, Richard S.; Schessl, Joachim; Elman, Lauren; Felice, Kevin; Ferguson, Toby A.; Ceyhan-Birsoy, Ozge; Beggs, Alan H.; Tennekoon, Gihan; Johnson, Janel O.; Bönnemann, Carsten G.

JAMA Neurology. Jun 01, 2015 72(6):689-698

Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.; Stadler ZK; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101705370 Publication Model: Print Cited Medium: Internet ISSN: 2473-4284 (Electronic) Linking ISSN: 24734284 NLM ISO Abbreviation: JCO Precis Oncol Subsets: MEDLINE

Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Selenica P; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Chui MH; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Jayakumaran G; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ptashkin R; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Misyura M; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Aypar U; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Jairam S; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Yang C; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Li Y; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mehta N; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Kemel Y; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Salo-Mullen E; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Maio A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Sheehan M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Zehir A; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Carlo M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Latham A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Stadler Z; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Robson M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Offit K; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Ladanyi M; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Walsh M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Reis-Filho JS; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Mandelker D; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE

Setton J; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Selenica P; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; GROW School for Ontology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands.; Mukherjee S; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Shah R; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Pecorari I; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; McMillan B; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Pei IX; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Kemel Y; Niehaus Center of Inherited Cancer Genomics, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Sheehan M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Tkachuk K; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Brown DN; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Zhang L; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Cadoo K; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Powell S; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Molecular Biology Program, Sloan Kettering Institute, New York, NY, 10065, USA.; Weigelt B; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Robson M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Riaz N; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Offit K; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Reis-Filho JS; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA. reisfilj@mskcc.org.; Mandelker D; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA. mandelkd@mskcc.org.

Publisher: Breast Cancer Research Foundation Country of Publication: United States NLM ID: 101674891 Publication Model: Electronic Cited Medium: Print ISSN: 2374-4677 (Print) Linking ISSN: 23744677 NLM ISO Abbreviation: NPJ Breast Cancer Subsets: PubMed not MEDLINE