Vetrini, Francesco
,
McKee, Shane
Rosenfeld, Jill A.
Suri, Mohnish
Lewis, Andrea M.
Nugent, Kimberly Margaret
Roeder, Elizabeth
Littlejohn, Rebecca O.
Holder, Sue
Zhu, Wenmiao
Alaimo, Joseph T.
Graham, Brett
Harris, Jill M.
Gibson, James B.
Pastore, Matthew
McBride, Kim L.
Komara, Makanko
Al-Gazali, Lihadh
Al Shamsi, Aisha
Fanning, Elizabeth A.
Wierenga, Klaas J.
Scott, Daryl A.
Ben-Neriah, Ziva
Meiner, Vardiella
Cassuto, Hanoch
Elpeleg, Orly
Holder, J. Lloyd Jr
Burrage, Lindsay C.
Seaver, Laurie H.
Van Maldergem, Lionel
Mahida, Sonal
Soul, Janet S.
Marlatt, Margaret
Matyakhina, Ludmila
Vogt, Julie
Gold, June-Anne
Park, Soo-Mi
Varghese, Vinod
Lampe, Anne K.
Kumar, Ajith
Lees, Melissa
Holder-Espinasse, Muriel
McConnell, Vivienne
Bernhard, Birgitta
Blair, Ed
Harrison, Victoria
Muzny, Donna M.
Gibbs, Richard A.
Elsea, Sarah H.
Posey, Jennifer E.
Bi, Weimin
Lalani, Seema
Xia, Fan
Yang, Yaping
Eng, Christine M.
Lupski, James R.
Liu, Pengfei
Funding for this research was provided by:
National Human Genome Research Institute (K08 HG008986)
NHGRI/NHLBI (UM1HG006542)
National Institute of Neurological Disorders and Stroke (R35 NS105078-01)
Health Innovation Challenge Fund (HICF-1009-003)
Wellcome Trust (WT098051)
Article History
Received: 27 October 2018
Accepted: 15 February 2019
First Online: 28 February 2019
Change Date: 25 March 2019
Change Type: Correction
Change Details: It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated.
Ethics approval and consent to participate
: All participants provided written informed consent to participate in the study. The study was approved by the Institutional Review Board of Baylor College of Medicine (H-22769 and H-41191) and the UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research conforms with the principles of the Declaration of Helsinki.
: The consent to publish all identifiable information presented in the study including Fig. InternalRef removed was provided by the parents or legal guardians of the subjects.
: Baylor College of Medicine (BCM) and Miraca Holdings Inc. have formed a joint venture with shared ownership and governance of Baylor Genetics (BG), which performs chromosomal microarray analysis and clinical exome sequencing. JAR, SHE, WB, FX, YY, CME and PL are employees of BCM and derive support through a professional services agreement with BG. FV and WZ are employees of BG. JRL serves on the Scientific Advisory Board of BG. JRL has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals, and is a coinventor on multiple US and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The other authors declare that they have no competing interests.
: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.