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Open Access
Peer-reviewed
Research Article
Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes
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Christy L. Rhine ,
Contributed equally to this work with: Christy L. Rhine, Christopher Neil, Jing Wang
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliations Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, United States of America, Autism & Developmental Medicine Institute, and Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, United States of America
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Christopher Neil ,
Contributed equally to this work with: Christy L. Rhine, Christopher Neil, Jing Wang
Roles Formal analysis, Investigation, Validation
Affiliations Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, United States of America, Autism & Developmental Medicine Institute, and Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, United States of America, C enter for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America
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Jing Wang ,
Contributed equally to this work with: Christy L. Rhine, Christopher Neil, Jing Wang
Roles Formal analysis, Investigation
Affiliations Autism & Developmental Medicine Institute, and Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, United States of America, C enter for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America
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Samantha Maguire,
Roles Investigation, Validation, Writing – review & editing
Affiliation Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, United States of America
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Luke Buerer,
Roles Formal analysis, Investigation
Affiliation C enter for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America
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Mitchell Salomon,
Roles Data curation, Formal analysis, Investigation
Affiliation Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, United States of America
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Ijeoma C. Meremikwu,
Roles Investigation, Validation
Affiliation Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, United States of America
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Juliana Kim,
Roles Validation
Affiliation Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, United States of America
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Natasha T. Strande,
Roles Data curation, Investigation, Writing – review & editing
Affiliation Autism & Developmental Medicine Institute, and Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, United States of America
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William G. Fairbrother
Roles Conceptualization, Supervision, Writing – original draft, Writing – review & editing
* E-mail: william_fairbrother@brown.edu
Affiliations Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, United States of America, C enter for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America, Hassenfeld Child Health Innovation Institute of Brown University, Providence, Rhode Island, United States of America
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Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes
- Christy L. Rhine,
- Christopher Neil,
- Jing Wang,
- Samantha Maguire,
- Luke Buerer,
- Mitchell Salomon,
- Ijeoma C. Meremikwu,
- Juliana Kim,
- Natasha T. Strande,
- William G. Fairbrother
- Published: January 20, 2022
- https://doi.org/10.1371/journal.pgen.1009884