Risultati della ricerca - Laura V. Milko

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  1. 1
    Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review

    Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review di Emily C. Shen, Swetha Srinivasan, Lauren E. Passero, Caitlin G. Allen, Madison Dixon, Kimberly Foss, Brianna Halliburton, Laura V. Milko, Amelia K. Smit, Rebecca Carlson, Megan C. Roberts

    Pubblicazione 2022
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  2. 2
    The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation

    The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation di Kimberly Foss, Julianne O’Daniel, Jonathan S. Berg, Sabrina N. Powell, R. Jean Cadigan, Kristine J. Kuczynski, Laura V. Milko, Katherine W. Saylor, Megan C. Roberts, Karen E. Weck, Gail E. Henderson

    Pubblicazione 2022
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  3. 3
    Increasing the diagnostic yield of exome sequencing by copy number variant analysis

    Increasing the diagnostic yield of exome sequencing by copy number variant analysis di Daniel S. Marchuk, Kristy Crooks, Natasha T. Strande, Kathleen Kaiser‐Rogers, Laura V. Milko, Alicia Brandt, Alexandra Arreola, Christian R. Tilley, Chris Bizon, Neeta L. Vora, Kirk C. Wilhelmsen, James P. Evans, Jonathan S. Berg

    Pubblicazione 2018
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  4. 4
    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel di Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S. Hruska, Helio A. Costa, Katherine Lachlan, Joanne Ngeow, Jill S. Barnholtz‐Sloan, Kaitlin Sesock, Felicia Hernandez, Liying Zhang, Laura V. Milko, Sharon E. Plon, Madhuri Hegde, Charis Eng

    Pubblicazione 2018
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  5. 5
    An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

    An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening di Laura V. Milko, Julianne O’Daniel, Daniela M. DeCristo, Stephanie B. Crowley, Ann Katherine M. Foreman, Kathleen Wallace, Lonna Mollison, Natasha T. Strande, Zahra S. Girnary, Lacey Boshe, Arthur S. Aylsworth, Müge Güçsavaş‐Çalıkoğlu, Dianne M. Frazier, Neeta L. Vora, Myra I. Roche, Bradford C. Powell, Cynthia M. Powell, Jonathan S. Berg

    Pubblicazione 2019
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  6. 6
    Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

    Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders di Gloria Haskell, Michael C. C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, C. Bizon, Nizar Chahin, Robert Greenwood, Laura V. Milko, Yael Shiloh‐Malawsky, Kristy Crooks, Natasha T. Strande, Michael B. Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen E. Weck, James P. Evans, Jonathan S. Berg

    Pubblicazione 2018
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  7. 7
    Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

    Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes di Jodie Ingles, Jennifer Goldstein, Courtney Thaxton, Colleen Caleshu, Edward W. Corty, Stephanie B. Crowley, Kristen Dougherty, Steven M. Harrison, Jennifer McGlaughon, Laura V. Milko, Ana Morales, Bryce A. Seifert, Natasha T. Strande, Kate Thomson, J. Peter van Tintelen, Kathleen Wallace, Roddy Walsh, Quinn S. Wells, Nicola Whiffin, Leora Witkowski, Christopher Semsarian, James S. Ware, Ray E. Hershberger, Birgit Funke

    Pubblicazione 2019
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  8. 8
    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... di 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

    Pubblicazione 2018
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  9. 9
    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 di 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

    Pubblicazione 2017
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  10. 10
    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 di 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

    Pubblicazione 2016
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  11. 11
    Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

    Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project di Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne O’Daniel, Bryce A. Seifert, Kristy Lee, Alicia Brandt, Chelsea Gustafson, Daniela M. DeCristo, Natasha T. Strande, Lori Ramkissoon, Laura V. Milko, Phillips Owen, Sayanty Roy, Mai Xiong, Ryan S. Paquin, Rita M. Butterfield, Megan A. Lewis, Katherine J. Souris, Donald B. Bailey, Christine Rini, Jessica K. Booker, Bradford C. Powell, Karen E. Weck, Cynthia M. Powell, Jonathan S. Berg

    Pubblicazione 2020
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  12. 12
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

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

    Pubblicazione 2024
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  13. 13
    Newborn Sequencing in Genomic Medicine and Public Health

    Newborn Sequencing in Genomic Medicine and Public Health di Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, Alan H. Beggs, Steven E. Brenner, Amy Brower, Julie A. Cakici, Ozge Ceyhan‐Birsoy, Kee Chan, Flavia Chen, Robert J. Currier, Dmitry Dukhovny, Robert C. Green, Julie Harris-Wai, Ingrid A. Holm, Brenda Iglesias, Galen Joseph, Stephen F. Kingsmore, Barbara A. Koenig, Pui‐Yan Kwok, John D. Lantos, Steven J. Leeder, Megan A. Lewis, Amy L. McGuire, Laura V. Milko, Sean D. Mooney, Richard B. Parad, Stacey Pereira, Joshua E. Petrikin, Bradford C. Powell, Cynthia M. Powell, Jennifer M. Puck, Heidi L. Rehm, Neil Risch, Myra I. Roche, Joseph T.C. Shieh, Narayanan Veeraraghavan, Michael S. Watson, Laurel K. Willig, Timothy W. Yu, Tiina K. Urv, Anastasia L. Wise

    Pubblicazione 2017
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