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Open Access
Peer-reviewed
Research Article
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
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Thomas V. Fernandez ,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing
* E-mail: thomas.fernandez@yale.edu
Affiliations Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America, Department of Psychiatry, Yale University School of Medicine, New Haven, CT, United States America
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Zsanett P. Williams,
Roles Data curation, Formal analysis, Project administration, Writing – review & editing
Affiliation Department of Psychiatry, Vanderbilt University School of Nursing, Nashville, TN, United States America
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Tina Kline,
Roles Data curation, Investigation, Methodology, Project administration, Writing – review & editing
Affiliation Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States America
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Shreenath Rajendran,
Roles Data curation, Methodology, Project administration, Validation, Writing – review & editing
Affiliation Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States America
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Farhan Augustine,
Roles Data curation, Investigation, Methodology, Project administration, Validation
Affiliation Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States America
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Nicole Wright,
Roles Data curation, Investigation, Methodology, Project administration, Validation, Writing – review & editing
Affiliation Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America
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Catherine A. W. Sullivan,
Roles Data curation, Investigation, Methodology, Validation, Writing – review & editing
Affiliation Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States America
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Emily Olfson,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America
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Sarah B. Abdallah,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America
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Wenzhong Liu,
Roles Data curation, Investigation, Methodology, Project administration, Validation, Writing – review & editing
Affiliation Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America
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Ellen J. Hoffman,
Roles Conceptualization, Investigation, Methodology, Writing – review & editing
Affiliation Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America
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Abha R. Gupta,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Validation, Writing – original draft, Writing – review & editing
Affiliations Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States America
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Harvey S. Singer
Roles Conceptualization, Data curation, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing
Affiliation Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States America
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Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
- Thomas V. Fernandez,
- Zsanett P. Williams,
- Tina Kline,
- Shreenath Rajendran,
- Farhan Augustine,
- Nicole Wright,
- Catherine A. W. Sullivan,
- Emily Olfson,
- Sarah B. Abdallah,
- Wenzhong Liu
- Published: October 3, 2023
- https://doi.org/10.1371/journal.pone.0291978