Search Results - Juliann M. Savatt

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  1. 1
    Genetic Testing in Neurodevelopmental Disorders

    Genetic Testing in Neurodevelopmental Disorders by Juliann M. Savatt, Scott M. Myers

    Published 2021-02-01
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  2. 2
    Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

    Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort by Kelly M. Schiabor Barrett, Max Masnick, Kathryn E. Hatchell, Juliann M. Savatt, Natalie Banet, Adam Buchanan, Huntington F. Willard

    Published 2022-04-01
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  3. 3
    A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

    A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System by Laney K. Jones, Laney K. Jones, Natasha T. Strande, Natasha T. Strande, Evan M. Calvo, Jingheng Chen, Gabriela Rodriguez, Cara Z. McCormick, Miranda L. G. Hallquist, Juliann M. Savatt, Juliann M. Savatt, Heather Rocha, Marc S. Williams, Amy C. Sturm, Amy C. Sturm, Adam H. Buchanan, Russell E. Glasgow, Christa L. Martin, Christa L. Martin, Alanna Kulchak Rahm

    Published 2022-05-01
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  4. 4
    Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

    Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort by Juliann M. Savatt, Nicole M. Ortiz, Gretchen M. Thone, Whitney S. McDonald, Melissa A. Kelly, Alexander S. F. Berry, Madiha M. Alvi, Miranda L. G. Hallquist, Jennifer Malinowski, Nicholas C. Purdy, Marc S. Williams, Amy C. Sturm, Adam H. Buchanan

    Published 2022-06-01
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  5. 5
    Application of a framework to guide genetic testing communication across clinical indications

    Application of a framework to guide genetic testing communication across clinical indications by Miranda L. G. Hallquist, Eric P. Tricou, Kelly E. Ormond, Juliann M. Savatt, Curtis R. Coughlin, W. Andrew Faucett, Laura Hercher, Howard P. Levy, Julianne M. O’Daniel, Holly L. Peay, Melissa Stosic, Maureen Smith, Wendy R. Uhlmann, Hannah Wand, Karen E. Wain, Adam H. Buchanan

    Published 2021-04-01
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  6. 6
    Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

    Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric... by Juliann M. Savatt, Jennifer K. Wagner, Steven Joffe, Alanna Kulchak Rahm, Marc S. Williams, Angela R. Bradbury, F. Daniel Davis, Julie Hergenrather, Yirui Hu, Melissa A. Kelly, H. Lester Kirchner, Michelle N. Meyer, Jessica Mozersky, Sean M. O’Dell, Josie Pervola, Andrea Seeley, Amy C. Sturm, Adam H. Buchanan

    Published 2020-05-01
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  7. 7
    The Brain Gene Registry: a data snapshot

    The Brain Gene Registry: a data snapshot by Dustin Baldridge, Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta, Inez Oh, Virginia Lanzotti, Daleep Grewal, Erin Rooney Riggs, Juliann M. Savatt, Rachel Hauck, Abigail Sveden, the Brain Gene Registry Consortium, John N. Constantino, Joseph Piven, Christina A. Gurnett, Maya Chopra, Heather Hazlett, Philip R. O. Payne

    Published 2024-04-01
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  8. 8
    De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

    De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway by Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S. Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C.E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain

    Published 2022-07-01
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