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Authors
Schulze, Katharina V.
Szafranski, Przemyslaw
Lesmana, Harry
Hopkin, Robert J.
Hamvas, Aaron
Wambach, Jennifer A.
Shinawi, Marwan
Zapata, Gladys
Carvalho, Claudia M. B.
Liu, Qian
Karolak, Justyna A.
Lupski, James R.
Hanchard, Neil A.
Stankiewicz, Paweł https://orcid.org/0000-0002-6456-7490
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Funding
Funding for this research was provided by:
National Heart, Lung, and Blood Institute (R01HL137203)
National Organization for Rare Disorders (16001)
National Human Genome Research Institute (UM1HG006542)
National Institute of Neurological Disorders and Stroke (R35 NS105078)
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Article History
Received: 23 January 2019
Accepted: 13 March 2019
First Online: 8 April 2019
Ethics approval and consent to participate
: This study was approved by the Institutional Review Board for Human Subject Research at Baylor College of Medicine (H-8712) and Washington University (HRPO: 201102465 & 201,106,421). Written informed consent was provided by the parents of all subjects.
: Written informed consent to the release of genetic and clinical information into databases or publications was provided by the parents of all subjects.
: J.R.L. has stock ownership in 23andMe and Lasergen, is a paid consultant for Regeneron Pharmaceuticals, and is a co-inventor on multiple US and European patents related to molecular diagnostics for inherited neuropathies, 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 exome sequencing offered in the Baylor Genetics Laboratory. The other authors declare that they have no competing interests.
: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
