,
Bostwick, Bret L.
McLean, Scott
Posey, Jennifer E.
Streff, Haley E.
Gripp, Karen W.
Blesson, Alyssa
Powell-Hamilton, Nina
Tusi, Jessica
Stevenson, David A.
Farrelly, Ellyn
Hudgins, Louanne
Yang, Yaping
Xia, Fan
Wang, Xia
Liu, Pengfei
Walkiewicz, Magdalena
McGuire, Marianne
Grange, Dorothy K.
Andrews, Marisa V.
Hummel, Marybeth
Madan-Khetarpal, Suneeta
Infante, Elena
Coban-Akdemir, Zeynep
Miszalski-Jamka, Karol
Jefferies, John L.
Rosenfeld, Jill A.
Emrick, Lisa
Nugent, Kimberly M.
Lupski, James R.
Belmont, John W.
Lee, Brendan
Lalani, Seema R.
Funding for this research was provided by:
Office of Strategic Coordination (U01 HG007709-01)
National Human Genome Research Institute (UM1HG006542, HG008986)
Article History
Received: 25 April 2017
Accepted: 24 July 2017
First Online: 14 August 2017
Ethics approval and consent to participate
: The institutional review board of the Baylor College of Medicine approved this study. Participants were enrolled after written informed consent was obtained from parents or legal guardians. The study conforms to the Helsinki Declaration.
: Written informed consent for publication from the parents or legal guardians to publish the work was obtained.
: Baylor College of Medicine (BCM) and Miraca Holdings Inc. have formed a joint venture with shared ownership and governance of the Baylor Genetics (BG), which performs clinical exome sequencing. JEP, MM, JAR, JRL, BL and SRL are employees of BCM and derive support through a professional services agreement with the BG. JRL serves on the Scientific Advisory Board of the BG. JRL has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals, has stock options in Lasergen, Inc. and is a co-inventor of US and European patents related to molecular diagnostics for inherited neuropathies, eye diseases and bacterial genomic fingerprinting. The remaining authors declare that they have no competing interests.
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