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Authors
Lewis, Robert G.
O’Shea, John M.
Pizzo, Lucilla
Wen, Ting
Fulmer, Makenzie L.
Zhao, Jian
Verheijen, Jan
Zhang, Chaofan
Velinder, Matt
Nicholas, Thomas J.
Boyden, Steven E.
Ward, Alistair
Baldwin, Erin E.
Andrews, Ashley
Ruiz, Joselin Hernandez
Marchetti, Marco
Viskochil, David
Carey, John C.
Bleyl, Steven B.
Butterfield, Russell J.
Taliercio, Vanina
Botto, Lorenzo D.
Mao, Rong
Bayrak-Toydemir, Pinar
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Funding
Funding for this research was provided by:
National Institutes of Health Shared Instrumentation Grant (1S10OD021644-01A1)
National Institute of Neurological Disorders and Stroke (U01HG010217)
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Article History
Received: 25 June 2025
Accepted: 1 September 2025
First Online: 14 November 2025
Declarations
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: This study adhered to the Declaration of Helsinki. This study was reviewed and approved by the Institutional Review Board at the Undiagnosed Diseases Network and the University of Utah. IRB identifiers: 15HG0130 (UDN) and IRB_00129735 (Utah Penelope Program). Clinical and genomic data used in this study were obtained through participation in the Undiagnosed Diseases Network and the Utah Penelope Program. All protocols were reviewed and approved by the appropriate Institutional Review Boards, and informed consent was obtained from all participants or their legal guardians in accordance with institutional and national ethical guidelines.
: Written informed consent has been obtained from all the participants and the parents/legal guardians of minors for their personal or clinical details along with any identifying images to be published in this study. Participants were fully briefed on the purpose and use of their contributions and voluntarily agreed to their inclusion. Participant images were reviewed and have written approval by all participants and/or their legal guardians.
: The authors declare no competing interests.
