Bilaketaren emaitzak - Laura V. Milko

  • Erakusten 1 - 13 emaitzak -- 13
Findu emaitzak
  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 nork 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

    Argitaratua 2022
    Testu osoa Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2022
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2018
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2018
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2019
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  6. 6
    Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

    Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders nork 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

    Argitaratua 2018
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  7. 7
    Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

    Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes nork 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

    Argitaratua 2019
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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... nork 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

    Argitaratua 2018
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2017
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2016
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  11. 11
    Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

    Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project nork 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

    Argitaratua 2020
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  12. 12
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

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

    Argitaratua 2024
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  13. 13
    Newborn Sequencing in Genomic Medicine and Public Health

    Newborn Sequencing in Genomic Medicine and Public Health nork 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

    Argitaratua 2017
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:

Bilaketa egiteko lanabesak: