Document is current
Any future updates will be listed below
-
Authors
Luo, Shiyu https://orcid.org/0000-0002-6965-8674
Gailus-Durner, Valérie
McGivern, Bobbi
Li, Qifei
Kottmeier, Jessica
Ho, Mai-Lan
Mor-Shaked, Hagar https://orcid.org/0000-0001-6631-0376
Elpeleg, Orly
Aref-Eshghi, Erfan
Brodeur, Amanda C.
Schmitz-Abe, Klaus
Genetti, Casie A.
Picker, Jonathan
Shi, Jiahai
Bux, Reem Ibrahim
Ben-Omran, Tawfeg
Fuchs, Helmut
Harel, Tamar
de Angelis, Martin Hrabě https://orcid.org/0000-0002-7898-2353
,
Garrett, Lillian
Amarie, Oana Veronica
Spielmann, Nadine
Sanz-Moreno, Adrián
da Silva-Buttkus, Patricia
Dragano, Nathalia RV
Becker, Lore
Hölter, Sabine M.
Seisenberger, Claudia
Marschall, Susan
Aguilar-Pimentel, Juan Antonio
Agrawal, Pankaj B. https://orcid.org/0000-0003-3255-0456
- License Information
-
More Information
Article History
Received: 20 November 2024
Revised: 15 March 2025
Accepted: 29 April 2025
First Online: 15 May 2025
Competing interests
: BM and EAE are employees of and may own stock in GeneDx, LLC.
: This study was approved by the Institutional Review Board (IRB) at Boston Children’s Hospital (under the protocol#10-02-0253) and University of Miami (IRB protocol# 20230140). All patients or their guardians provided written informed consent under BCH protocol 10-02-0253, collaborator protocol (HMO-0306-10), or through GeneDx protocol Research to Expand the Understanding of Genetic Variants: Clinical and Genetic Correlations, Western Institutional Review Board (protocol# 20171030). Mice were housed in individually ventilated cages (IVC) available ad libitum according to the European Union directive 2010/63/EU, German laws, and German Mouse Clinic (GMC) housing conditions (). All animal care and use in this study met approval by, and complied with, the rules of the district government of Upper Bavaria (Regierung von Oberbayern) Germany and were conducted according to the rules outlined by the Helmholtz Zentrum München ethical committee.
