Výsledky vyhledávání - Erin Rooney Riggs

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  1. 1
    Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

    Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience Autor Erin Rooney Riggs, Laird Jackson, David T. Miller, Steven Van Vooren

    Vydáno 2012
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  2. 2
    GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

    GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge Autor 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

    Vydáno 2015
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  3. 3
    Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

    Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification Autor Courtney Thaxton, Molly E. Good, Marina T. DiStefano, Xi Luo, Erica Andersen, Erik C. Thorland, Jonathan S. Berg, Christa Lese Martin, Heidi L. Rehm, Erin Rooney Riggs

    Vydáno 2021
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  4. 4
    Using ClinVar as a Resource to Support Variant Interpretation

    Using ClinVar as a Resource to Support Variant Interpretation Autor 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

    Vydáno 2016
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  5. 5
    Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

    Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) Autor Gordana Raca, Caroline Astbury, Andrea Behlmann, Mauricio De Castro, Scott E. Hickey, Ender Karaca, Chelsea Lowther, Erin Rooney Riggs, Bryce A. Seifert, Erik C. Thorland, Joshua L. Deignan

    Vydáno 2022
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  6. 6
    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... Autor Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Alastair J. Martin

    Vydáno 2019
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  7. 7
    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Gen... Autor Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Christa Lese Martin

    Vydáno 2021
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  8. 8
    Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

    Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics) Autor Amy Nisselle, Monika Janinski, Melissa Martyn, Belinda McClaren, Nadia Kaunein, Jane Maguire, Erin Rooney Riggs, Kristine Barlow‐Stewart, Andrea Belcher, John Bernat, Stephanie Best, Michelle Bishop, June C. Carroll, Martina C. Cornel, Vajira H. W. Dissanayake, Agnes E. Dodds, Kate Dunlop, Gunjan Garg, Russell Gear, Debra Graves, Ken Knight, Bruce R. Korf, Dhavendra Kumar, Mercy Laurino, Alan Ma, Jane Maguire, Andrew Mallett, Maria McCarthy, Alison McEwen, Nicola Mulder, Chirag Patel, Catherine Quinlan, Kate Reed, Erin Rooney Riggs, Ingrid Sinnerbrink, Anne Slavotinek, Vijayaprakash Suppiah, Bronwyn Terrill, Edward S. Tobias, Emma Tonkin, Steve Trumble, Tina‐Marié Wessels, Sylvia A. Metcalfe, Helen Jordan, Clara Gaff

    Vydáno 2021
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  9. 9
    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria Autor Ingo Helbig, Erin Rooney Riggs, Carrie‐Anne Barry, Karl Martin Klein, David A. Dyment, Courtney Thaxton, Bekim Sadiković, Tristan T. Sands, Jacy L. Wagnon, Khalida Liaquat, Maria Roberta Cilio, Ghayda Mirzaa, Kristen Park, Erika Axeen, Elizabeth Butler, Tanya Bardakjian, Pasquale Striano, Annapurna Poduri, Rebecca K. Siegert, Andrew R. Grant, Katherine L. Helbig, Heather C. Mefford

    Vydáno 2018
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  10. 10
    Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

    Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource Autor Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, Julianne O’Daniel, Erin M. Ramos, Avni Santani, Alan L. Scott, Sharon E. Plon, Heidi L. Rehm, Christa Lese Martin, Jonathan S. Berg

    Vydáno 2017
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  11. 11
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation Autor 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

    Vydáno 2024
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  12. 12
    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines Autor Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina T. DiStefano, Julianne O’Daniel, Kristy Lee, Erin Rooney Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa

    Vydáno 2022
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  13. 13
    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources Autor Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin‐Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew E. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, Thabo M. Yates, Heidi L. Rehm

    Vydáno 2022
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  14. 14
    The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data Autor Sebastian Köhler, Sandra C. Doelken, Chris Mungall, Sebastian Bauer, Helen V. Firth, Isabelle Bailleul‐Forestier, Graeme Black, Danielle L. Brown, Michael Brudno, Jennifer Campbell, David Fitzpatrick, Janan T. Eppig, Andrew P. Jackson, Kathleen Freson, Marta Gîrdea, Ingo Helbig, Jane A. Hurst, Johanna Jähn, Laird G. Jackson, Anne M. Kelly, David H. Ledbetter, Sahar Mansour, Christa Lese Martin, Celia Moss, Andrew Mumford, Willem H. Ouwehand, Soo-Mi Park, Erin Rooney Riggs, Richard H. Scott, Sanjay M. Sisodiya, Steven Van Vooren, Ronald J. Wapner, Andrew O.M. Wilkie, Caroline F. Wright, Anneke T. Vulto‐van Silfhout, Nicole de Leeuw, Bert B.A. de Vries, Nicole L. Washingthon, Cynthia L. Smith, Monte Westerfield, Paul N. Schofield, Barbara J. Ruef, Georgios V. Gkoutos, Melissa Haendel, Damian Smedley, Suzanna Lewis, Peter N. Robinson

    Vydáno 2013
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  15. 15
    The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

    The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species Autor Kent Shefchek, Nomi L. Harris, Michael Gargano, Nicolas Matentzoglu, Deepak Unni, Matthew Brush, Daniel Keith, Tom Conlin, Nicole Vasilevsky, Xingmin Zhang, James P. Balhoff, Lawrence Babb, Susan M. Bello, Hannah Blau, Yvonne M. Bradford, Seth Carbon, Leigh Carmody, Lauren Chan, Valentina Cipriani, Alayne Cuzick, Maria Della Rocca, Nathan Dunn, Shahim Essaid, Petra Fey, Chris Grove, Jean-Phillipe Gourdine, Ada Hamosh, Midori A. Harris, Ingo Helbig, Maureen E. Hoatlin, Marcin P. Joachimiak, Simon Jupp, Kenneth B Lett, Suzanna Lewis, Craig McNamara, Zoë May Pendlington, Clare Pilgrim, Tim Putman, Vida Ravanmehr, Justin Reese, Erin Rooney Riggs, Sofia Robb, Paola Roncaglia, James Seager, Erik Segerdell, Morgan Similuk, Andrea L. Storm, Courtney Thaxon, Anne Thessen, Julius O.B. Jacobsen, Julie A. McMurry, Tudor Groza, Sebastian Köhler, Damian Smedley, Peter N. Robinson, Chris Mungall, Melissa Haendel, Monica Muñoz‐Torres, David Osumi-Sutherland

    Vydáno 2019
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  16. 16
    Mondo: Unifying diseases for the world, by the world

    Mondo: Unifying diseases for the world, by the world Autor Nicole Vasilevsky, Nicolas Matentzoglu, Sabrina Toro, Joseph Eugene Flack, Harshad Hegde, Deepak Unni, Gioconda Alyea, Joanna Amberger, Lawrence Babb, James P. Balhoff, Taylor I. Bingaman, Gully Burns, Orion J. Buske, Tiffany J Callahan, Leigh Carmody, Paula Carrio-Cordo, Lauren Chan, George S Chang, S. Christiaens, Michel Dumontier, Laura Failla, May J Flowers, H. Alpha Garrett, Jennifer Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L. Harris, Jason A. Hilton, Daniel Himmelstein, Charles Tapley Hoyt, Megan Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna Maglott, Adriana J Malheiro, Birgit Meldal, Monica Muñoz‐Torres, Tristan Nelson, F. W. Nicholas, David Ochoa, Daniel Olson, Tudor I. Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L. Rehm, Lyubov Remennik, Erin Rooney Riggs, Paola Roncaglia, Justyne Ross, Marion Shadbolt, Kent Shefchek, Morgan Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L. Storm, Doron Stupp, Gregory S. Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, D. K. C. Tay, Courtney Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H. Wagner, Danielle Welter, Patricia L. Whetzel, Lori Whiteman, Valerie Wood, Colleen H. Xu, Andreas Zankl, Xingmin Zhang, Christopher G. Chute, Peter N. Robinson, Chris Mungall, Ada Hamosh, Melissa Haendel

    Vydáno 2022
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  17. 17
    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... Autor Marni J. Falk, Li Shen, Michael Gonzalez, Jeremy Leipzig, Marie T. Lott, Alphons P. M. Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip E. Yeske, Renkui Bai, Richard G. Boles, Virginia Brilhante, David Ralph, Jeana T. DaRe, Robert Shelton, Sharon F. Terry, Zhe Zhang, William C. Copeland, Mannis van Oven, Holger Prokisch, Douglas C. Wallace, Marcella Attimonelli, Danuta Krotoski, Stephan Züchner, Xiaowu Gai, Sherri J. Bale, Jirair K. Bedoyan, Doron M. Behar, Penelope E. Bonnen, Lisa Brooks, Claudia Calabrese, Sarah E. Calvo, Patrick F. Chinnery, John Christodoulou, Deanna M. Church, Rosanna Clima, Bruce H. Cohen, Richard G.H. Cotton, I.F.M. de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory M. Enns, Giuseppe Gasparre, Amy Goldstein, Iris L. Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard Haas, Hákon Hákonarson, Michio Hirano, Douglas S. Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth M. McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki, Aurora Pujol, Melissa A. Parisi, Juan C. Perín, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Reddi Honey, Heidi L. Rehm, Erin Rooney Riggs, Richard J. Rodenburg, Yaffa Rubinstein, Russell P. Saneto, Mariangela Santorsola, Curt Scharfe, Claire A. Sheldon, Eric A. Shoubridge, Domenico Simone, H.J.M. Smeets, Jan Smeitink, Christine M. Stanley, Anu Suomalainen, Mark A. Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne A. Wolfe, Lee-Jun Wong

    Vydáno 2014
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