Oppermann, Henry https://orcid.org/0000-0001-9216-5918
Marcos-Grañeda, Elia https://orcid.org/0000-0002-0595-6824
Weiss, Linnea A.
Gurnett, Christina A.
Jelsig, Anne Marie https://orcid.org/0000-0002-0916-4517
Vineke, Susanne H.
Isidor, Bertrand
Mercier, Sandra
Magnussen, Kari
Zacher, Pia https://orcid.org/0000-0002-0211-5763
Hashim, Mona
Pagnamenta, Alistair T. https://orcid.org/0000-0001-7334-0602
Race, Simone
Srivastava, Siddharth https://orcid.org/0000-0001-7008-1879
Frazier, Zoë
Maiwald, Robert
Pergande, Matthias https://orcid.org/0000-0003-1100-3752
Milani, Donatella
Rinelli, Martina
Levy, Jonathan
Krey, Ilona https://orcid.org/0000-0002-9168-7615
Fontana, Paolo
Lonardo, Fortunato
Riley, Stephanie
Kretzer, Jasmine
Rankin, Julia
Reis, Linda M. https://orcid.org/0000-0002-5098-6336
Semina, Elena V. https://orcid.org/0000-0003-0531-3586
Reuter, Miriam S. https://orcid.org/0000-0001-8662-6685
Scherer, Stephen W. https://orcid.org/0000-0002-8326-1999
Iascone, Maria https://orcid.org/0000-0002-4707-212X
Weis, Denisa
Fagerberg, Christina R. https://orcid.org/0000-0002-5206-4327
Brasch-Andersen, Charlotte
Hansen, Lars Kjaersgaard
Kuechler, Alma
Noble, Nathan
Gardham, Alice
Tenney, Jessica https://orcid.org/0000-0002-2459-8831
Rathore, Geetanjali
Beck-Woedl, Stefanie
Haack, Tobias B.
Pavlidou, Despoina C.
Atallah, Isis https://orcid.org/0000-0002-0618-1549
Vodopiutz, Julia https://orcid.org/0000-0002-8087-7026
Janecke, Andreas R. https://orcid.org/0000-0001-7155-0315
Hsieh, Tzung-Chien https://orcid.org/0000-0003-3828-4419
Lesmann, Hellen
Klinkhammer, Hannah https://orcid.org/0000-0003-3752-1275
Krawitz, Peter M.
Lemke, Johannes R. https://orcid.org/0000-0002-4435-6610
Jamra, Rami Abou https://orcid.org/0000-0002-1542-1399
Nieto, Marta https://orcid.org/0000-0002-8349-8435
Tümer, Zeynep https://orcid.org/0000-0002-4777-5802
Platzer, Konrad https://orcid.org/0000-0001-6127-6308
Funding for this research was provided by:
Ministerio de Ciencia, Tecnología e Innovación Productiva (FPU18/06240, PID2020-112831GB-I00 AEI /10.13039/501100011033)
U.S. Department of Health & Human Services | National Institutes of Health (P50 HD103525, EY025718)
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (K23NS119666)
U.S. Department of Health & Human Services | National Institutes of Health
Article History
Received: 21 December 2022
Revised: 26 June 2023
Accepted: 27 July 2023
First Online: 30 August 2023
Competing interests
: SWS is a scientific consultant for Population Bio and the King Abdullaziz University, and intellectual property held in his name by the Hospital for Sick Children is licensed to Athena Diagnostics. There is no conflicted of interest for all other authors.
: All experiments complied with ethical animal testing and research regulations and European Commission guidelines (2010/63/E.U.) and were approved by the CSIC and the Community of Madrid Ethics Committees on Animal Experimentation (PROEX 395/15, 236.7/20). This study was approved by the ethics committees of the University of Leipzig (402/16-ek), Cambridge South REC (14/EE/1112), JKU Linz (ECS 1253/2021). When carried out in a research setting, testing was approved by the ethics committees of the respective centers. Research data from additional contributing centers are covered by their own Research Ethics protocols and boards. For some individuals, genetic testing was carried out as part of routine clinical care. Institutional ethics approval was not required. All individuals or their legal guardians provided informed written consent for genetic testing and publication of clinical details and images.