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Authors
Dardas, Zain
Marafi, Dana
Duan, Ruizhi
Fatih, Jawid M.
El-Rashidy, Omnia F.
Grochowski, Christopher M.
Carvalho, Claudia M. B. https://orcid.org/0000-0002-2090-298X
Jhangiani, Shalini N.
Bi, Weimin
Du, Haowei
Gibbs, Richard A.
Posey, Jennifer E. https://orcid.org/0000-0003-4814-6765
Calame, Daniel G. https://orcid.org/0000-0001-6860-372X
Zaki, Maha S. https://orcid.org/0000-0001-7840-0002
Lupski, James R. https://orcid.org/0000-0001-9907-9246
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Funding
Funding for this research was provided by:
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NS105078)
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Article History
Received: 11 February 2024
Revised: 15 May 2024
Accepted: 1 August 2024
First Online: 10 September 2024
Competing interests
: JRL has stock ownership in 23andMe, is a paid consultant for Genome International, and is a co-inventor on multiple U.S. and European patents related to molecular diagnostics for inherited neuropathies, genomic disorders, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis and clinical genomic sequencing (both ES and GS) offered in the Baylor Genetics Laboratory (). JRL serves on the Scientific Advisory Board of BG.
: The study was approved by the institutional review board (IRB) at Baylor College of Medicine (BCM) (H-29697). Written informed consent was obtained from the families involved in this study in accordance with the Declaration of Helsinki. Written informed consent for publication of images was obtained.
