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Authors
Du, Haowei
Lun, Ming Yin
Gagarina, Lidiia
Bengtsson, Jesse D.
Grochowski, Christopher M.
Mehaffey, Michele G.
Hwang, James Paul
Jhangiani, Shalini N.
Bhamidipati, Sravya V.
Muzny, Donna M.
Poli, M. Cecilia
Ochoa, Sebastian
Chinn, Ivan K.
Lindstrand, Anna
Posey, Jennifer E.
Gibbs, Richard A.
Liu, Pengfei
Lupski, James R.
Carvalho, Claudia M. B.
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Funding
Funding for this research was provided by:
National Human Genome Research Institute (U01 HG011758)
National Human Genome Research Institute (UM1 HG006542)
National Heart, Lung, and Blood Institute (UM1 HG006542)
National Institute of Neurological Disorders and Stroke (R35 NS105078)
National Institute of General Medical Sciences (R01 GM132589)
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Article History
Received: 14 June 2025
Accepted: 22 December 2025
First Online: 31 December 2025
Declarations
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: This study was performed with approval by the Institutional Review Board (IRB) at Baylor College of Medicine and Pacific Northwest Research Institute under research protocols (H-29697 and H-47127/20202158). The research was conducted in compliance with the principles of Helsinki Declaration.
: Written consent was obtained to publish clinical information and genomic information of the patients reported herein.
: None to report.
