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Funding for this research was provided by:
National Institute of Neurological Disorders and Stroke (U01NS134358)
Wu Tsai Human Performance Alliance
Article History
Received: 2 November 2025
Accepted: 29 May 2026
First Online: 15 June 2026
Declarations
:
: Ethical and research approvals for participants in the Undiagnosed Diseases Network were obtained from the Stanford University Institutional Review Board (protocol 47026) and the National Human Genome Research Institute Institutional Review Board (protocol 15-HG-0130). All participants provided written informed consent. All experimental methods comply with the Declaration of Helsinki.
: Written informed consent for publication of clinical details was obtained from the participants or their legal guardians.
: J.L.B. is a shareholder and co-founder of Cache DNA, Inc.; consults for OpenAI. E.A.A. is founder of Personalis, Deepcell, Svexa, Candela, Saturnus Bio, and Parameter Health; advisor for SequenceBio, Foresite Labs, Pacific Biosciences, and Versant Ventures; and non-executive director of AstraZeneca and Svexa; he also holds stock in Pacific Biosciences and AstraZeneca.