检索结果 - Kalotina Machini

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  1. 1
    Genetic Counselors’ Views and Experiences with the Clinical Integration of Genome Sequencing

    Genetic Counselors’ Views and Experiences with the Clinical Integration of Genome Sequencing 由 Kalotina Machini, Jessica Douglas, Alicia Braxton, Judith Tsipis, Kate M. Kramer

    出版 2014
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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 由 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

    出版 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 由 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

    出版 2017
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  4. 4
    A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

    A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients 由 Allison L. Cirino, Neal K. Lakdawala, Barbara McDonough, Lauren Conner, Dale Adler, Mark S. Weinfeld, Patrick T. O’Gara, Heidi L. Rehm, Kalotina Machini, Matthew S. Lebo, Carrie L. Blout Zawatsky, Robert C. Green, Calum A. MacRae, Christine E. Seidman, Carolyn Y. Ho

    出版 2017
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  5. 5
    Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

    Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults Accordi... 由 Aniruddh P. Patel, Minxian Wang, Akl C. Fahed, Heather Mason‐Suares, Deanna Brockman, Renée C. Pelletier, Sami S. Amr, Kalotina Machini, Megan H. Hawley, Leora Witkowski, Christopher Koch, Anthony Philippakis, Christopher A. Cassa, Patrick T. Ellinor, Sekar Kathiresan, Kenney Ng, Matthew S. Lebo, Amit V. Khera

    出版 2020
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  6. 6
    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 由 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

    出版 2014
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  7. 7
    The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients

    The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients 由 Jason L. Vassy, Kurt D. Christensen, Erica F. Schonman, Carrie L. Blout Zawatsky, Jill O. Robinson, Joel B. Krier, Pamela M. Diamond, Matthew S. Lebo, Kalotina Machini, Danielle R. Azzariti, Dmitry Dukhovny, David W. Bates, Calum A. MacRae, Michael F. Murray, Heidi L. Rehm, Amy L. McGuire, Robert C. Green

    出版 2017
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  8. 8
    Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

    Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization 由 Carrie L. Blout Zawatsky, Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk, Marcie Steeves, Christopher Koch, Melissa Kurtz Uveges, Janelle Shea, Nina B. Gold, Joel B. Krier, Natalie Boutin, Lisa Mahanta, Heidi L. Rehm, Scott T. Weiss, Elizabeth W. Karlson, Jordan W. Smoller, Matthew S. Lebo, Robert C. Green

    出版 2021
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  9. 9
    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 由 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

    出版 2019
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  10. 10
    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 由 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

    出版 2021
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  11. 11
    Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

    Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project 由 Casie A. Genetti, Talia S. Schwartz, Jill O. Robinson, Grace E. VanNoy, Devan Petersen, Stacey Pereira, Shawn Fayer, Hayley A. Peoples, Pankaj B. Agrawal, Wendi N. Betting, Ingrid A. Holm, Amy L. McGuire, Susan E. Waisbren, Timothy W. Yu, Robert C. Green, Alan H. Beggs, Richard B. Parad, 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. Gutierrez, 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

    出版 2018
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  12. 12
    Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

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

    出版 2018
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  13. 13
    Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project

    Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project 由 Stacey Pereira, Hadley Stevens Smith, Leslie A. Frankel, Kurt D. Christensen, Rubaiya Islam, Jill O. Robinson, Casie A. Genetti, Carrie L. Blout Zawatsky, Bethany Zettler, Richard B. Parad, Susan E. Waisbren, Alan H. Beggs, Robert C. Green, Ingrid A. Holm, Amy L. McGuire, 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. Gutierrez, Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Kaitlyn B. Lee, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen Dolphyn, 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, Hadley Stevens Smith, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu, Carrie L. Blout Zawatsky, Bethany Zettler

    出版 2021
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  14. 14
    Actionable exomic incidental findings in 6503 participants: challenges of variant classification

    Actionable exomic incidental findings in 6503 participants: challenges of variant classification 由 Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson, Joseph S Salama, Ragan Hart, Brian H. Shirts, Mitzi L. Murray, Mari Tokita, Carlos J. Gallego, Daniel S. Kim, James T. Bennett, David R. Crosslin, Jane Ranchalis, Kelly L. Jones, Elisabeth A. Rosenthal, Ella R. Jarvik, Andy Itsara, Emily H. Turner, Daniel S. Herman, Jennifer Schleit, Amber Burt, Seema M. Jamal, Jenica Abrudan, Andrew D. Johnson, Laura K. Conlin, Matthew C. Dulik, Avni Santani, Danielle R. Metterville, Melissa Kelly, Ann Katherine M. Foreman, Kristy Lee, Kent D. Taylor, Xiuqing Guo, Kristy Crooks, Lesli A. Kiedrowski, Leslie J. Raffel, Ora Gordon, Kalotina Machini, Robert J. Desnick, Leslie G. Biesecker, Steven A. Lubitz, Surabhi Mulchandani, Gregory M. Cooper, Steven Joffe, C. Sue Richards, Yaoping Yang, Jerome I. Rotter, Stephen S. Rich, Christopher J. O’Donnell, Jonathan S. Berg, Nancy B. Spinner, James P. Evans, Stephanie M. Fullerton, Kathleen A. Leppig, Robin L. Bennett, Thomas D. Bird, Virginia P. Sybert, William M. Grady, Holly K. Tabor, Jerry H. Kim, Michael J. Bamshad, Benjamin S. Wilfond, Arno G. Motulsky, C. Ronald Scott, Colin C. Pritchard, Tom Walsh, Wylie Burke, Wendy H. Raskind, Peter H. Byers, Fuki M. Hisama, Heidi L. Rehm, Debbie A. Nickerson, Gail P. Jarvik

    出版 2015
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