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Authors
Dardas, Zain http://orcid.org/0000-0003-2387-3122
Fatih, Jawid M.
Jolly, Angad
Dawood, Moez
Du, Haowei
Grochowski, Christopher M.
Jones, Edward G.
Jhangiani, Shalini N.
Wehrens, Xander H. T.
Liu, Pengfei
Bi, Weimin
Boerwinkle, Eric
Posey, Jennifer E.
Muzny, Donna M.
Gibbs, Richard A.
Lupski, James R. http://orcid.org/0000-0001-9907-9246
Coban-Akdemir, Zeynep http://orcid.org/0000-0001-9928-9032
Morris, Shaine A. http://orcid.org/0000-0002-8056-0934
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Funding
Funding for this research was provided by:
Baylor-Hopkins Center for Mendelian Genomics (UM1HG006542)
Foundation for the National Institutes of Health (5RO1 HD039056, 5RO1 HL091771)
National Institute of Neurological Disorders and Stroke (R35 NS105078)
Genomic Research Elucidates the Genetics of Rare disease (UM1 HG011758)
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Article History
Received: 26 June 2023
Accepted: 12 March 2024
First Online: 3 April 2024
Declarations
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: The Institutional Review Board of Baylor College of Medicine approved all research study protocols. Written informed consent was obtained from all participating individuals including probands and any available family members from Group 1. For the clinically tested patients (Group 2), a waiver of consent was granted as part of 2 retrospective cohort studies of clinical genetic testing in CHD (IRB approval numbers: H-48014 and H-41191). These approvals were obtained in accordance with the Helsinki Declaration.
: Not applicable.
: J.R.L. 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 WGS) offered in the Baylor Genetics Laboratory (ExternalRef removed). J.R.L. serves on the Scientific Advisory Board of BG. The remaining authors declare that they have no competing interests.
