,
Carvalho, Claudia M. B. https://orcid.org/0000-0002-2090-298X
Coban-Akdemir, Zeynep
Hijazi, Hadia
Yuan, Bo
Pendleton, Matthew
Harrington, Eoghan
Beaulaurier, John
Juul, Sissel
Turner, Daniel J.
Kanchi, Rupa S.
Jhangiani, Shalini N.
Muzny, Donna M.
Gibbs, Richard A.
Stankiewicz, Pawel
Belmont, John W.
Shaw, Chad A.
Cheung, Sau Wai
Hanchard, Neil A.
Sutton, V. Reid
Bader, Patricia I.
Lupski, James R.
Article History
Received: 12 December 2018
Accepted: 2 April 2019
First Online: 23 April 2019
Ethics approval and consent to participate
: Informed consent was obtained for participation in the research study. This study was approved by the Baylor Institutional Review Board (IRB) at Baylor College of Medicine (protocols H-25466 and/or H-29697). This study was performed within the guidelines of the Declaration of Helsinki.
: A written consent was obtained to publish clinical information of the patient reported here.
: Baylor College of Medicine (BCM) and Miraca Holdings have formed a joint venture with shared ownership and governance of the Baylor Genetics (BG), which performs clinical microarray analysis and clinical exome sequencing. C.A.S. is an employee of BCM and derives support through a professional services agreement with the BG. J.R.L. serves on the Scientific Advisory Board of the BG. J.R.L. has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals, and is a co-inventor on multiple United States 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 molecular genetic testing offered in the Baylor Genetics Laboratories. J.W.B. is currently a full-time employee of Illumina, Inc. though all contributions to this work took place while he was an employee of BCM. MP, E.H., J.B., S.J., and D.J.T. are full-time employees of, and stock option holders in, Oxford Nanopore Technologies. The remaining authors declare that they have no competing interests.
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