Gambin, Tomasz
Yuan, Bo
Bi, Weimin
Liu, Pengfei
Rosenfeld, Jill A.
Coban-Akdemir, Zeynep
Pursley, Amber N.
Nagamani, Sandesh C. S.
Marom, Ronit
Golla, Sailaja
Dengle, Lauren
Petrie, Heather G.
Matalon, Reuben
Emrick, Lisa
Proud, Monica B.
Treadwell-Deering, Diane
Chao, Hsiao-Tuan
Koillinen, Hannele
Brown, Chester
Urraca, Nora
Mostafavi, Roya
Bernes, Saunder
Roeder, Elizabeth R.
Nugent, Kimberly M.
Bader, Patricia I.
Bellus, Gary
Cummings, Michael
Northrup, Hope
Ashfaq, Myla
Westman, Rachel
Wildin, Robert
Beck, Anita E.
Immken, LaDonna
Elton, Lindsay
Varghese, Shaun
Buchanan, Edward
Faivre, Laurence
Lefebvre, Mathilde
Schaaf, Christian P.
Walkiewicz, Magdalena
Yang, Yaping
Kang, Sung-Hae L.
Lalani, Seema R.
Bacino, Carlos A.
Beaudet, Arthur L.
Breman, Amy M.
Smith, Janice L.
Cheung, Sau Wai
Lupski, James R.
Patel, Ankita
Shaw, Chad A.
Stankiewicz, Paweł
Funding for this research was provided by:
National Institutes of Health (U54 HG006542)
National Institutes of Health (R01 NS058529)
Polish Budget Founds (IP2015 019874)
American Academy of Neurology (AAN Neuroscience Research Scholarship)
National Institute of Neurological Disorders and Stroke (CNCDP-K12 Fellowship)
Article History
Received: 12 April 2017
Accepted: 1 September 2017
First Online: 21 September 2017
Ethics approval and consent to participate
: Approval for this study, including written informed consents (H-22769) and waivers of informed consent (H-37568 and H-36612), were obtained from the Baylor College of Medicine Institutional Review Board. The Baylor College of Medicine IRB (IORG number 0000055) is recognized by the United States Office of Human Research Protections (OHRP) and Food and Drug Administration (FDA) under the federal-wide assurance program. The Baylor College of Medicine IRB is also fully accredited by the Association for the Accreditation of Human Research Protection Programs (AAHRPP).
: The Editor has waived consent to publish the clinical information in the manuscript due to the minimal risk of identification.
: BCM and Miraca Holdings Inc. have formed a joint venture with shared ownership and governance of Baylor Genetics (BG), formerly the Baylor Miraca Genetics Laboratories (BMGL), which performs chromosomal microarray analysis and clinical exome sequencing. PL, CAB, WB, JAR, SRL, MW, YY, AMB, JLS, SWC, AP, CAS, and PS 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 on multiple United States 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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