Resultados de procura - Shawn Fayer

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  1. 1
    Gene-based calibration of high-throughput functional assays for clinical variant classification

    Gene-based calibration of high-throughput functional assays for clinical variant classification por Daniel Zeiberg, Malvika Tejura, Abbye E. McEwen, Shawn Fayer, Vikas Pejaver, Alan F. Rubin, Lea M. Starita, Douglas M. Fowler, Anne O’Donnell‐Luria, Predrag Radivojac

    Publicado 2025
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  2. 2
    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN por Shawn Fayer, Carolyn Horton, Jennifer N. Dines, Alan F. Rubin, Marcy E. Richardson, Kelly McGoldrick, Felicia Hernandez, Tina Pesaran, Rachid Karam, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita

    Publicado 2021
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  3. 3
    The BabySeq project: implementing genomic sequencing in newborns

    The BabySeq project: implementing genomic sequencing in newborns por 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

    Publicado 2018
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  4. 4
    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 por 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

    Publicado 2019
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  5. 5
    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 por 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

    Publicado 2018
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  6. 6
    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 por 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

    Publicado 2021
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  7. 7
    Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project

    Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project por 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

    Publicado 2021
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