检索结果 - Kevin M. Bowling

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  1. 1
    Interaction of Genetic and Environmental Factors in a<i>Drosophila</i>Parkinsonism Model

    Interaction of Genetic and Environmental Factors in a<i>Drosophila</i>Parkinsonism Model 由 Anathbandhu Chaudhuri, Kevin M. Bowling, Christopher D. Funderburk, Hakeem O. Lawal, Arati A. Inamdar, Zhe Wang, Janis M. O’Donnell

    出版 2007
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  2. 2
    Analysis of DNA Methylation in a Three-Generation Family Reveals Widespread Genetic Influence on Epigenetic Regulation

    Analysis of DNA Methylation in a Three-Generation Family Reveals Widespread Genetic Influence on Epigenetic Regulation 由 Jason Gertz, Katherine E. Varley, Timothy E. Reddy, Kevin M. Bowling, Florencia Pauli, Stephanie Parker, Katerina S. Kucera, Huntington F. Willard, R Myers

    出版 2011
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  3. 3
    Dynamic DNA methylation across diverse human cell lines and tissues

    Dynamic DNA methylation across diverse human cell lines and tissues 由 Katherine E. Varley, Jason Gertz, Kevin M. Bowling, Stephanie Parker, Timothy E. Reddy, Florencia Pauli, Marie K. Cross, Brian A. Williams, J Stamatoyannopoulos, Gregory E. Crawford, Devin Absher, B Wold, R Myers

    出版 2013
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  4. 4
    Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2

    Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2 由 Jacob Marsh, Guangming Huang, Kevin M. Bowling, Alan E. Renton, Ellen Ziegemeier, T. Blake Ball, Cyril Pottier, Carlos Cruchaga, Gregory S. Day, Randall J. Bateman, Jorge J. Llibre‐Guerra, Eric McDade, Celeste M. Karch

    出版 2025
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  5. 5
    Recurrent read-through fusion transcripts in breast cancer

    Recurrent read-through fusion transcripts in breast cancer 由 Katherine E. Varley, Jason Gertz, Brian S. Roberts, Nicholas S. Davis, Kevin M. Bowling, Marie K. Kirby, Amy S. Nesmith, Patsy G. Oliver, William E. Grizzle, Andres Forero, Donald J. Buchsbaum, Albert F. LoBuglio, R Myers

    出版 2014
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  6. 6
    Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

    Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders 由 Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley, Ryne C. Ramaker, Brianne B. Rogers, E. Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher Plott, Jerry Jenkins, Stacy W. Gray, James Holt, Kevin M. Bowling, E. Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M. Cooper

    出版 2021
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  7. 7
    Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy

    Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy 由 Rikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valérie Taly, E. Martina Bebin, Susan M. Hiatt, Jeremy W. Prokop, Kevin M. Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand‐Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H.G. Larsen, Eric LeGuern, Renzo Guerrini, Guido Rubboli, Gregory M. Cooper, Stéphanie Baulac

    出版 2016
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  8. 8
    Post-mortem molecular profiling of three psychiatric disorders

    Post-mortem molecular profiling of three psychiatric disorders 由 Ryne C. Ramaker, Kevin M. Bowling, Brittany N. Lasseigne, Megan Hastings Hagenauer, Andrew A. Hardigan, Nicholas S. Davis, Jason Gertz, Preston Cartagena, David Walsh, Marquis P. Vawter, Edward G. Jones, Alan F. Schatzberg, Jack D. Barchas, Stanley J. Watson, Blynn G. Bunney, Huda Akil, William E. Bunney, Jun Z. Li, Sara J. Cooper, R Myers

    出版 2017
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  9. 9
    Whole-Exome Sequencing in Familial Parkinson Disease

    Whole-Exome Sequencing in Familial Parkinson Disease 由 Janice L. Farlow, Laurie Robak, Kurt N. Hetrick, Kevin M. Bowling, Eric Boerwinkle, Zeynep Coban‐Akdemir, Tomasz Gambin, Richard A. Gibbs, Shen Gu, Preti Jain, Joseph Jankovic, Shalini N. Jhangiani, Kaveeta Kaw, Dongbing Lai, Hai Lin, Hua Ling, Yunlong Liu, James R. Lupski, Donna M. Muzny, Paula Porter, Elizabeth Pugh, Janson J. White, Kimberly F. Doheny, R Myers, Joshua Shulman, Tatiana Foroud

    出版 2015
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  10. 10
    Systematic reanalysis of genomic data improves quality of variant interpretation

    Systematic reanalysis of genomic data improves quality of variant interpretation 由 Susan M. Hiatt, Michelle D. Amaral, Kevin M. Bowling, Candice R. Finnila, Michelle L. Thompson, Stacy W. Gray, James M.J. Lawlor, J. Nicholas Cochran, E. Martina Bebin, Kyle B. Brothers, Kelly M. East, Whitley V. Kelley, Neil E. Lamb, Shawn Levy, Edward J. Lose, Matthew B. Neu, Carla A. Rich, Shirley Simmons, R Myers, Gregory S. Barsh, Gregory M. Cooper

    出版 2018
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  11. 11
    Genomic diagnosis for children with intellectual disability and/or developmental delay

    Genomic diagnosis for children with intellectual disability and/or developmental delay 由 Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, Stacy W. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana Whittle, Benjamin T. Weaver, Amy S. Nesmith, R Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper

    出版 2017
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  12. 12
    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies 由 Laura M. Amendola, Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Gregory M. Cooper, Michael O. Dorschner, Catherine C. Driscoll, Ann Katherine M. Foreman, Katie Golden‐Grant, John M. Greally, Lucia A. Hindorff, Dona Kanavy, Vaidehi Jobanputra, Jennifer J. Johnston, Eimear E. Kenny, Shannon McNulty, Priyanka Murali, Jeffrey Ou, Bradford C. Powell, Heidi L. Rehm, Bradley A. Rolf, Tamara S. Roman, Jessica Van Ziffle, Saurav Guha, Avinash Abhyankar, David R. Crosslin, Eric Venner, Bo Yuan, Hana Zouk, Gail P. Jarvik

    出版 2020
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  13. 13
    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium 由 Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkari, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Gregory M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carolyn Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljevic, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph S Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm

    出版 2016
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  14. 14
    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism 由 Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Wu‐Lin Charng, Margaret Drummond‐Borg, Mohammad K. Eldomery, Ayman W. El‐Hattab, Mohammed A. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, R Myers, Gregory M. Cooper, Kerstin Kutsche

    出版 2016
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  15. 15
    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium 由 Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkari, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Gregory M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carolyn Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljević, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph S Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm

    出版 2016
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  16. 16
    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder 由 Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper

    出版 2018
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  17. 17
    Genome sequencing as a first-line diagnostic test for hospitalized infants

    Genome sequencing as a first-line diagnostic test for hospitalized infants 由 Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila, Susan M. Hiatt, Donald R. Latner, Michelle D. Amaral, James M.J. Lawlor, Kelly M. East, Meagan E. Cochran, Veronica Greve, Whitley V. Kelley, Stacy W. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick‐Esteve, Anna Hurst, Jegen Kandasamy, Wally Carlo, Kyle B. Brothers, Brian Kirmse, Renate Savich, Duane Superneau, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper

    出版 2021
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  18. 18
    A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

    A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories 由 Julianne O’Daniel, Heather M. McLaughlin, Laura M. Amendola, Sherri J. Bale, Jonathan S. Berg, David Bick, Kevin M. Bowling, Elizabeth Chao, Wendy K. Chung, Laura K. Conlin, Gregory M. Cooper, Soma Das, Joshua L. Deignan, Michael O. Dorschner, James P. Evans, Arezou A. Ghazani, Katrina A.B. Goddard, Michele C. Gornick, Kelly D. Farwell Hagman, Tina Hambuch, Madhuri Hegde, Lucia A. Hindorff, Ingrid A. Holm, Gail P. Jarvik, Amy Knight Johnson, Lindsey Mighion, Massimo Morra, Sharon E. Plon, Sumit Punj, C. Sue Richards, Avni Santani, Brian H. Shirts, Nancy B. Spinner, Sha Tang, Karen E. Weck, Susan M. Wolf, Yaping Yang, Heidi L. Rehm

    出版 2016
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  19. 19
    Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

    Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study 由 Ragan Hart, Barbara B. Biesecker, Carrie L. Blout Zawatsky, Kurt D. Christensen, Laura M. Amendola, Katie Bergstrom, Sawona Biswas, Kevin M. Bowling, Kyle B. Brothers, Laura K. Conlin, Gregory M. Cooper, Matthew C. Dulik, Kelly M. East, Jessica N. Everett, Candice R. Finnila, Arezou A. Ghazani, Marian J. Gilmore, Katrina A.B. Goddard, Gail P. Jarvik, Jennifer J. Johnston, Tia L. Kauffman, Whitley V. Kelley, Joel B. Krier, Katie L. Lewis, Amy L. McGuire, Carmit K. McMullen, Jeffrey Ou, Sharon E. Plon, Heidi L. Rehm, C. Sue Richards, Edward J. Romasko, Ane Miren Sagardia, Nancy B. Spinner, Michelle L. Thompson, Erin Turbitt, Jason L. Vassy, Benjamin S. Wilfond, David L. Veenstra, Jonathan S. Berg, Robert C. Green, Leslie G. Biesecker, Lucia A. Hindorff

    出版 2018
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  20. 20
    Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

    Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine 由 Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum, Jonathan S. Berg, Barbara A. Bernhardt, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout Zawatsky, Kevin M. Bowling, Kyle B. Brothers, Wylie Burke, Charlisse Caga-Anan, Arul M. Chinnaiyan, Wendy K. Chung, Ellen Wright Clayton, Gregory M. Cooper, Kelly M. East, James P. Evans, Stephanie M. Fullerton, Levi A. Garraway, Jeremy R. Garrett, Stacy W. Gray, Gail E. Henderson, Lucia A. Hindorff, Ingrid A. Holm, Michelle Lewis, Carolyn M. Hutter, Pasi A. Jänne, Steven Joffe, David Kaufman, Bartha Maria Knoppers, Barbara A. Koenig, Ian D. Krantz, Teri A. Manolio, Laurence B. McCullough, Jean E. McEwen, Amy L. McGuire, Donna M. Muzny, R Myers, Deborah A. Nickerson, Jeffrey Ou, D. Williams Parsons, Gloria M. Petersen, Sharon E. Plon, Heidi L. Rehm, J. Scott Roberts, Dan R. Robinson, Joseph S Salama, Sarah Scollon, Richard R. Sharp, Brian H. Shirts, Nancy B. Spinner, Holly K. Tabor, Peter Tarczy‐Hornoch, David L. Veenstra, Nikhil Wagle, Karen E. Weck, Benjamin S. Wilfond, Kirk C. Wilhelmsen, Susan M. Wolf, Julia Wynn, Joon‐Ho Yu, Michelle D. Amaral, Laura M. Amendola, Paul S. Appelbaum, Samuel Aronson, Nonie S. Arora, Danielle R. Azzariti, Gregory S. Barsh, E. Martina Bebin, Barbara B. Biesecker, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout Zawatsky, Kevin M. Bowling, Kyle B. Brothers, Brian Brown, Amber Burt, Peter H. Byers, Charlisse Caga-Anan, Muge G. Calikoglu, Sara J. Carlson, Nizar Chahin, Arul M. Chinnaiyan, Kurt D. Christensen, Wendy K. Chung, Allison L. Cirino, Ellen Wright Clayton, Laura K. Conlin, Gregory M. Cooper, David R. Crosslin, James V. Davis, Kelly Cue Davis, Matthew A. Deardorff, Batsal Devkota, Raymond De Vries, Pamela M. Diamond, Michael O. Dorschner

    出版 2016
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