检索结果 - Danielle R. Azzariti

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  1. 1
    Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

    Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange 由 Danielle R. Azzariti, Ada Hamosh

    出版 2020
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    Revisão
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  2. 2
    Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking

    Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking 由 Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    出版 2022
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    Artigo
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  3. 3
    A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

    A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement 由 Annie Niehaus, Danielle R. Azzariti, Steven M. Harrison, Marina T. DiStefano, Sarah E. Hemphill, Ozlem Senol-Cosar, Heidi L. Rehm

    出版 2019
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    Carta
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  4. 4
    GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

    GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge 由 Brianne Kirkpatrick, Erin Rooney Riggs, Danielle R. Azzariti, Vanessa Rangel Miller, David H. Ledbetter, David T. Miller, Heidi L. Rehm, Christa Lese Martin, W. Andrew Faucett

    出版 2015
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    Artigo
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  5. 5
    ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

    ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data 由 Alex Henrie, Sarah E. Hemphill, Nicole Ruiz-Schultz, Brandon J. Cushman, Marina T. DiStefano, Danielle R. Azzariti, Steven M. Harrison, Heidi L. Rehm, Karen Eilbeck

    出版 2018
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    Artigo
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  6. 6
    Using ClinVar as a Resource to Support Variant Interpretation

    Using ClinVar as a Resource to Support Variant Interpretation 由 Steven M. Harrison, Erin Rooney Riggs, Donna Maglott, Jennifer M. Lee, Danielle R. Azzariti, Annie Niehaus, Erin M. Ramos, Christa Lese Martin, Melissa Landrum, Heidi L. Rehm

    出版 2016
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  7. 7
    Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

    Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar 由 Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson, Tina Pesaran, Danielle R. Azzariti, Sherri J. Bale, Elizabeth Chao, Soma Das, Lisa M. Vincent, Heidi L. Rehm

    出版 2017
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  8. 8
    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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  9. 9
    Determinants of white matter hyperintensity burden in patients with Fabry disease

    Determinants of white matter hyperintensity burden in patients with Fabry disease 由 Natalia S. Rost, Lisa Cloonan, Allison Kanakis, Kaitlin Fitzpatrick, Danielle R. Azzariti, Virginia Clarke, Charles Marques Lourenço, Dominique P. Germain, Juan Politei, György A. Homola, Claudia Sommer, Nurcan Üçeyler, Katherine B. Sims

    出版 2016
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    Artigo
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  10. 10
    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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    Artigo
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  11. 11
    ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

    ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants 由 Ronak Y. Patel, Neethu Shah, Andrew R. Jackson, Rajarshi Ghosh, Piotr Pawliczek, Sameer Paithankar, Aaron B. Baker, Kevin Riehle, Hailin Chen, Sofia Milosavljevic, Chris Bizon, Shawn Rynearson, Tristan Nelson, Gail P. Jarvik, Heidi L. Rehm, Steven M. Harrison, Danielle R. Azzariti, Bradford C. Powell, Lawrence Babb, Sharon E. Plon, Aleksandar Milosavljevic

    出版 2017
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    Artigo
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  12. 12
    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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  13. 13
    ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

    ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation... 由 Edgar A. Rivera‐Muñoz, Laura V. Milko, Steven M. Harrison, Danielle R. Azzariti, C. Lisa Kurtz, Kristy Lee, Jessica L. Mester, Meredith Weaver, Erin Currey, William Craigen, Charis Eng, Birgit Funke, Madhuri Hegde, Ray E. Hershberger, Rong Mao, Robert D. Steiner, Lisa M. Vincent, Christa Lese Martin, Sharon E. Plon, Erin M. Ramos, Heidi L. Rehm, Michael S. Watson, Jonathan S. Berg

    出版 2018
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    Artigo
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  14. 14
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation 由 Erica Andersen, Danielle R. Azzariti, Lawrence Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly, Adam H. Buchanan, Marina T. DiStefano, Li Gong, Steven M. Harrison, Jessica Ezzell Hunter, B Kattman, Teri E. Klein, Melissa Landrum, Kandamurugu Manickam, Alessandra Serrano Marroquin, Alastair J. Martin, Laura V. Milko, Aleksandar Milosavljevic, Joannella Morales, Tristan Nelson, Sharon E. Plon, Bradford C. Powell, Erin M. Ramos, Heidi L. Rehm, Erin Rooney Riggs, Deborah Ritter, Neethu Shah, Courtney Thaxton, Erik C. Thorland, Meredith Weaver, Phillip Weller, Matt W. Wright

    出版 2024
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    Artigo
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  15. 15
    The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

    The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery 由 Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Anthony J. Brookes, Catherine A. Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O. M. Dyke, Johan T. den Dunnen, Helen V. Firth, Richard A. Gibbs, Marta Gîrdea, Michael Gonzalez, Melissa Haendel, Ada Hamosh, Ingrid A. Holm, Lijia Huang, Matthew E. Hurles, Ben Hutton, Joel B. Krier, Andriy Misyura, Chris Mungall, Justin Paschall, Benedict Paten, Peter N. Robinson, François Schiettecatte, Nara Sobreira, G. Jawahar Swaminathan, Peter E.M. Taschner, Sharon F. Terry, Nicole L. Washington, Stephan Züchner, Kym M. Boycott, Heidi L. Rehm

    出版 2015
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  16. 16
    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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    Artigo
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  17. 17
    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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    Artigo
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