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Authors
Garcia, Brandon T.
Westerfield, Lauren
Yelemali, Priya
Gogate, Nikhita
Rivera-Munoz, E. Andres
Du, Haowei
Dawood, Moez
Jolly, Angad
Lupski, James R.
Posey, Jennifer E.
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Funding
Funding for this research was provided by:
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
U.S. NIH National Human Genome Research Institute (U01 HG011758)
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Article History
Received: 6 November 2024
Accepted: 29 July 2025
First Online: 18 August 2025
Declarations
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: All clinical texts and data used herein were derived from published case reports available in the medical literature or the published gold standardized corpora. No unpublished clinical or research patient data were implemented in this study.
: Not applicable. No unpublished clinical or research patient data were implemented in this study.
: The Department of Molecular & Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted at Baylor Genetics Laboratories. JRL is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, genomic disorders and bacterial genomic fingerprinting. J.E.P. is a member of the advisory board for MaddieBio. The remaining authors declare that they do not have any competing interests.
