Funding for this research was provided by:
National Institute of Neurological Disorders and Stroke (R01 NS058978, R35 NS105078, R01 NS058529)
National Institute of General Medical Sciences (P30 GM114736, GM106373)
Ministerstvo Zdravotnictví Ceské Republiky (DRO 00064203, AZV16-30206A)
National Heart, Lung, and Blood Institute (US)/National Human Genome Research Institute (UM1HG006542)
Text and Data Mining valid from 2019-12-01
Received: 29 April 2019
Accepted: 10 October 2019
First Online: 9 December 2019
Ethics approval and consent to participate
: Ethics approval for work in this paper was obtained from the Institutional Review Board at Nemours/Alfred I. duPont Hospital for Children, the Institutional Review Board for research involving human individuals at Baylor College of Medicine, and Great Ormond Street Hospital for Children NHS Trust and Institute of Child Health Research Ethics Committee. Ethics approval covered molecular experiments on patient tissues to investigate the genetic basis of the patient disease. Patient clinical information is not presented in the paper. The research conformed to the principles of the Helsinki Declaration. Written informed consent was obtained for all the patient samples used in this study.
: Not applicable.
: J.R.L. has stock ownership in 23andMe, 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 (CMA) and clinical exome sequencing offered in the Baylor Genetics Laboratory (BMGL: ExternalRef removed). The remaining authors declare that they have no competing interests.