Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

• Anya T. Joynt,

  Roles Conceptualization, Formal analysis, Investigation, Methodology, Validation, Writing – original draft, Writing – review & editing

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  ⨯
• Taylor A. Evans,

  Roles Investigation, Methodology, Validation

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0002-0098-2871

  ⨯
• Matthew J. Pellicore,

  Roles Investigation, Methodology, Validation

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0002-6792-0456

  ⨯
• Emily F. Davis-Marcisak,

  Roles Investigation, Methodology, Validation

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0001-8624-1013

  ⨯
• Melis A. Aksit,

  Roles Methodology, Software

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0001-9628-0083

  ⨯
• Alice C. Eastman,

  Roles Methodology, Software

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0002-0103-0055

  ⨯
• Shivani U. Patel,

  Roles Resources

  Affiliation Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0003-2971-0383

  ⨯
• Kathleen C. Paul,

  Roles Methodology

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0001-9940-1979

  ⨯
• Derek L. Osorio,

  Roles Methodology

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0002-0707-3013

  ⨯
• Alyssa D. Bowling,

  Roles Methodology, Writing – review & editing

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0001-9974-9182

  ⨯
• Calvin U. Cotton,

  Roles Funding acquisition, Investigation, Methodology

  Affiliation Departments of Pediatrics, Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, United States of America

  ⨯
• Karen S. Raraigh,

  Roles Data curation, Writing – review & editing

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0001-6730-6854

  ⨯
• Natalie E. West,

  Roles Investigation, Resources

  Affiliation Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0002-0025-2422

  ⨯
• Christian A. Merlo,

  Roles Investigation, Resources

  Affiliation Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America

  ⨯
• Garry R. Cutting ,

  Roles Conceptualization, Funding acquisition, Investigation, Resources, Supervision, Writing – review & editing

  * E-mail: gcutting@jhmi.edu (GRC); nsharma5@jhmi.edu (NS)

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  ⨯
•  [ ... ],
• Neeraj Sharma

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Resources, Supervision, Validation, Writing – review & editing

  * E-mail: gcutting@jhmi.edu (GRC); nsharma5@jhmi.edu (NS)

  Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0001-8474-3714

  ⨯
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