檢索結果 - Erin M. Ramos

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  1. 1
    Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources

    Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources 由 Erin M. Ramos, Douglas Hoffman, Heather Junkins, Donna Maglott, Lon Phan, Stephen T. Sherry, Mike Feolo, Lucia A. Hindorff

    出版 2013
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  2. 2
    Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

    Potential etiologic and functional implications of genome-wide association loci for human diseases and traits 由 Lucia A. Hindorff, Praveen Sethupathy, Heather Junkins, Erin M. Ramos, Jayashri P. Mehta, Francis S. Collins, Teri A. Manolio

    出版 2009
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  3. 3
    Using the PhenX Toolkit to Add Standard Measures to a Study

    Using the PhenX Toolkit to Add Standard Measures to a Study 由 Tabitha Hendershot, Huaqin Pan, Jonathan L. Haines, William R. Harlan, Mary L. Marazita, Catherine A. McCarty, Erin M. Ramos, Carol M. Hamilton

    出版 2015
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  4. 4
    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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  5. 5
    The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data

    The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data 由 Kira M. Wong, Kristofor K. Langlais, Geoffrey S. Tobias, Colette Fletcher-Hoppe, Donna M. Krasnewich, Hilary S. Leeds, Laura Lyman Rodriguez, Georgy Godynskiy, Valérie Schneider, Erin M. Ramos, Stephen T. Sherry

    出版 2016
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  6. 6
    ClinGen — The Clinical Genome Resource

    ClinGen — The Clinical Genome Resource 由 Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks, Carlos D. Bustamante, James P. Evans, Melissa Landrum, David H. Ledbetter, Donna Maglott, Christa Lese Martin, Robert L. Nussbaum, Sharon E. Plon, Erin M. Ramos, Stephen T. Sherry, Michael S. Watson

    出版 2015
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  7. 7
    Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium

    Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium 由 Ellen Wright Clayton, Maureen E. Smith, Stephanie M. Fullerton, Wylie Burke, Catherine A. McCarty, Barbara A. Koenig, Amy L. McGuire, Laura M. Beskow, Lynn G. Dressler, Amy A. Lemke, Erin M. Ramos, Laura Lyman Rodriguez

    出版 2010
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  8. 8
    Ethical and practical challenges of sharing data from genome-wide association studies: The eMERGE Consortium experience

    Ethical and practical challenges of sharing data from genome-wide association studies: The eMERGE Consortium experience 由 Amy L. McGuire, Melissa Basford, Lynn G. Dressler, Stephanie M. Fullerton, Barbara A. Koenig, Rongling Li, Catherine A. McCarty, Erin M. Ramos, Maureen E. Smith, Carol P. Somkin, Carol Waudby, Wendy A. Wolf, Ellen Wright Clayton

    出版 2011
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  9. 9
    The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

    The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics 由 Alice B. Popejoy, Deborah Ritter, Kristy Crooks, Erin Currey, Stephanie M. Fullerton, Lucia A. Hindorff, Barbara A. Koenig, Erin M. Ramos, Elena P. Sorokin, Hannah Wand, Matt W. Wright, James Zou, Christopher R. Gignoux, Vence L. Bonham, Sharon E. Plon, Carlos D. Bustamante

    出版 2018
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  10. 10
    Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

    Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures 由 Alice B. Popejoy, Kristy Crooks, Stephanie M. Fullerton, Lucia A. Hindorff, Gillian W. Hooker, Barbara A. Koenig, Natalie Pino, Erin M. Ramos, Deborah Ritter, Hannah Wand, Matt W. Wright, Michael Yudell, James Zou, Sharon E. Plon, Carlos D. Bustamante, Kelly E. Ormond

    出版 2020
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  11. 11
    Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience

    Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience 由 Siiri Bennett, Neil E. Caporaso, Annette L. Fitzpatrick, Arpana Agrawal, Kathleen C. Barnes, Heather A. Boyd, Marilyn C. Cornelis, Nadia N. Hansel, Gerardo Heiss, John A. Heit, Jae H. Kang, Steven J. Kittner, Peter Kraft, William L. Lowe, Mary L. Marazita, Kristine R. Monroe, Louis R. Pasquale, Erin M. Ramos, Rob M. van Dam, Jenna Udren, Kayleen Williams

    出版 2011
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  12. 12
    Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

    Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network 由 Stephanie M. Fullerton, Wendy A. Wolf, Kyle B. Brothers, Ellen Wright Clayton, Dana C. Crawford, Joshua C. Denny, Philip Greenland, Barbara A. Koenig, Kathleen A. Leppig, Noralane M. Lindor, Catherine A. McCarty, Amy L. McGuire, Eugenia McPeek Hinz, Daniel B. Mirel, Erin M. Ramos, Marylyn D. Ritchie, Maureen E. Smith, Carol Waudby, Wylie Burke, Gail P. Jarvik

    出版 2012
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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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  14. 14
    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 由 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

    出版 2017
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  15. 15
    The PhenX Toolkit: Get the Most From Your Measures

    The PhenX Toolkit: Get the Most From Your Measures 由 Carol M. Hamilton, Lisa C. Strader, J. G. Pratt, Debbie Maiese, Tabitha Hendershot, Richard K. Kwok, J Hammond, Wayne Huggins, D. M. Jackman, Huaqin Pan, Destiney S Nettles, Terri H. Beaty, Lindsay A. Farrer, Peter Kraft, Mary L. Marazita, José M. Ordovás, Carlos N. Pato, M R Spitz, D K Wagener, Matthew R. Williams, Heather Junkins, W. R. Harlan, Erin M. Ramos, Jonathan L. Haines

    出版 2011
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  16. 16
    A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

    A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation 由 Jessica Ezzell Hunter, Stephanie A. Irving, Leslie G. Biesecker, Adam H. Buchanan, Brian C. Jensen, Kristy Lee, Christa Lese Martin, Laura V. Milko, Kristin R. Muessig, Annie Niehaus, Julianne O’Daniel, Margaret Piper, Erin M. Ramos, Sheri D. Schully, Alan L. Scott, Anne Slavotinek, Nara Sobreira, Natasha T. Strande, Meredith Weaver, Elizabeth M. Webber, Marc S. Williams, Jonathan S. Berg, James P. Evans, Katrina A.B. Goddard

    出版 2016
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  17. 17
    Next generation analytic tools for large scale genetic epidemiology studies of complex diseases

    Next generation analytic tools for large scale genetic epidemiology studies of complex diseases 由 Leah E. Mechanic, Huann‐Sheng Chen, Christopher I. Amos, Nilanjan Chatterjee, Nancy J. Cox, Rao L. Divi, Ruzong Fan, Emily Harris, Kevin B. Jacobs, Peter Kraft, Suzanne M. Leal, Kimberly A. McAllister, Jason H. Moore, Dina N. Paltoo, Michael A. Province, Erin M. Ramos, Marylyn D. Ritchie, Kathryn Roeder, Daniel J. Schaid, Matthew Stephens, Duncan C. Thomas, Clarice R. Weinberg, John S. Witte, Shunpu Zhang, Sebastian Zöllner, Eric J. Feuer, Elizabeth M. Gillanders

    出版 2011
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  18. 18
    Finding the missing heritability of complex diseases

    Finding the missing heritability of complex diseases 由 Teri A. Manolio, Francis S. Collins, Nancy J. Cox, David B. Goldstein, Lucia A. Hindorff, David J. Hunter, Mark I. McCarthy, Erin M. Ramos, Lon R. Cardon, Aravinda Chakravarti, Judy H. Cho, Alan E. Guttmacher, Augustine Kong, Leonid Kruglyak, Elaine R. Mardis, Charles N. Rotimi, Montgomery Slatkin, David Valle, Alice S. Whittemore, Michael Boehnke, Andrew G. Clark, Evan E. Eichler, Greg Gibson, Jonathan L. Haines, Trudy F. C. Mackay, Steven A. McCarroll, Peter M. Visscher

    出版 2009
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  19. 19
    <scp>CHRNB</scp>3 is more strongly associated with <scp>F</scp>agerström <scp>T</scp>est for <scp>C</scp>igarette <scp>D</scp>ependence‐based nicotine dependence than cigarettes per day: phenotype definition changes genome‐wide association studies results

    <scp>CHRNB</scp>3 is more strongly associated with <scp>F</scp>agerström <scp>T</scp>est for <scp>C</scp>igarette <scp>D</scp>ependence‐based nicotine dependence than cigarettes pe... 由 John P. Rice, Sarah M. Hartz, Arpana Agrawal, Laura Almasy, Siiri Bennett, Naomi Breslau, Kathleen K. Bucholz, Kimberly F. Doheny, Howard J. Edenberg, Alison Goate, Victor Hesselbrock, William B. Howells, Eric O. Johnson, John R. Kramer, Robert F. Krueger, Samuel Kuperman, Cathy C. Laurie, Teri A. Manolio, Rosalind J. Neuman, John I. Nürnberger, Bernice Porjesz, Elizabeth Pugh, Erin M. Ramos, Nancy L. Saccone, Scott F. Saccone, Marc A. Schuckit, Laura J. Bierut

    出版 2012
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  20. 20
    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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