Smits, Daphne J.
Debuy, Christophe
Brooks, Alice S.
Schot, Rachel https://orcid.org/0000-0001-9578-4095
Ferraro, Federico https://orcid.org/0000-0003-1365-2529
Rots, Dmitrijs
Bouman, Arjan
Verhoeven, Virginie J. M. https://orcid.org/0000-0001-7359-7862
Donker Kaat, Laura
Kant, Sarina G.
van Bever, Yolande
Demirdas, Serwet https://orcid.org/0000-0001-5496-4153
Zeidler, Shimriet
van Dooren, Marieke F.
Donze, Stephany H.
Hoefsloot, Lies H. https://orcid.org/0009-0000-3444-9955
van Slegtenhorst, Marjon A.
Wilke, Martina
Sleutels, Frank https://orcid.org/0000-0001-6813-5209
Drost, Mark
Brüggenwirth, Hennie T. https://orcid.org/0000-0003-4303-8896
van Minkelen, Rick
Goverde, Anne
Hol, Janna A.
van de Laar, Ingrid M. B. H.
van Ierland, Yvette
Kievit, Anneke
van der Schoot, Vyne https://orcid.org/0000-0001-9829-9220
Stuurman, Kyra E.
Mancini, Grazia M. S.
Wessels, Marja W.
van Ham, Tjakko J. https://orcid.org/0000-0002-2175-8713
Kleefstra, Tjitske
Barakat, Tahsin Stefan https://orcid.org/0000-0003-1231-1562
Article History
Received: 13 February 2025
Revised: 11 June 2025
Accepted: 15 July 2025
First Online: 29 July 2025
Competing interests
: The authors declare no competing interests.
: Using genome-wide technologies for diagnostic purposes was previously approved by the Erasmus MC institutional review board (MEC-2012-387). All individuals or legal guardians provided written consent to use pseudoanonymized clinical and analysis data.
: OMIM, . gnomAD, . SIFT, . PolyPhen2, .