Iwata-Otsubo, Aiko
Skraban, Cara M.
Yoshimura, Atsunori
Sakata, Toyonori
Alves, Cesar Augusto P.
Fiordaliso, Sarah K.
Kuroda, Yukiko
Vengoechea, Jaime
Grochowsky, Angela
Ernste, Paige
Lulis, Lauren
Nesbitt, Addie
Tayoun, Ahmad Abou
Gray, Christopher
Towne, Meghan C.
Radtke, Kelly
Normand, Elizabeth A.
Rhodes, Lindsay
Seiler, Christoph
Shirahige, Katsuhiko
Izumi, Kosuke
Funding for this research was provided by:
Children's Hospital of Philadelphia
National Institutes of Health (T32GM008638)
Japan Society for the Promotion of Science (Overseas Research Fellowship, 20H05940, 20H05940)
Japan Science and Technology Agency (CREST JPMJCR18S5)
Article History
Received: 22 November 2023
Accepted: 13 February 2024
First Online: 23 March 2024
Declarations
:
: MCT and KR are employees of Ambry Genetics. EAN and LR are employees of GeneDx, LLC.
: The following authors have no conflicts of interest to declare for this manuscript: AI-O,CMS, AY, TS, CAPA, SKF, YK, JV, AG, PE, LL, AN, AAT, CG, CS, KS, and KI. MCT and KR are employees of Ambry Genetics. EAN and LR are employees of GeneDx, LLC.
: Informed consent was obtained from Subjects 1 and 2. De-identified information was collected for Subjects 3 and 4.
: The authors affirm that human research participants provided informed consent for publication of the images in Figs. c, d.
: Subjects 1 and 2 were enrolled in the research study under an institutional review board-approved protocol (IRB16-013231). The animal study adhered to the principles set out in the Declaration of Helsinki. Animal experiments were approved by the Institutional Animal Care & Use Committees (IACUC) of the Children’s Hospital of Philadelphia (#21–001154).