Funding for this research was provided by:
National Institutes of Health (1U54HD083092)
National Institutes of Health (5RO1 HL091771, U54HG006542)
Doris Duke Charitable Foundation (2013096)
Received: 3 April 2017
Accepted: 12 October 2017
First Online: 31 October 2017
Ethics approval and consent to participate
: The Institutional Review Board of Baylor College of Medicine approved the study (Protocol number H-6040). The ethics committee at Children’s Hospital, Linz, Austria approved the study for cases recruited at that facility. Informed consent for inclusion in the study was obtained from all adult participants and from parents/guardians of minors. This study was conducted in accordance with the Declaration of Helsinki.
: Not applicable
: JRL holds stock ownership in 23andMe, Inc. and Lasergen, Inc., is a paid consultant for Regeneron Pharmaceuticals, and is a co-inventor on multiple US and European patents related to molecular diagnostics. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from molecular genetic testing offered in the Baylor Genetics diagnostic laboratory (BG). JRL is on the Scientific Advisory Board of the BG. AHL is now a full-time employee for Regeneron Pharmaceuticals, and JWB is a full-time employee of Illumina Inc., but all work was performed under their listed institutional appointments. The remaining authors declare that they have no competing interests.
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