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Authors
Geysens, Mathilde
Souche, Erika
Baroni, Maria Chiara
Benoit, Valérie
Beyltjens, Tessi
Bossuyt, Wouter
Bours, Vincent
Crabbé, Marian
Croes, Didier
De Smet, Matthias
Désir, Julie
Devriendt, Koenraad
Dheedene, Annelies
Dimitrov, Boyan Ivanov
Janssens, Katrien
Kumps, Candy
Lumaka, Aimé
Menten, Björn
Meuwissen, Marije
Monestier, Olivier
Mortier, Geert
Olsen, Catharina
Palmeira, Leonor
Peeters, Hilde
Pölsler, Laura
Revencu, Nicole
Roland, Dominique
Soblet, Julie
Sznajer, Yves
Taziaux, Sylvia
Van Esch, Hilde
Vandeweyer, Geert
Vantroys, Elise
Vilain, Catherline
Wiame, Elsa
Van Den Bogaert, Kris
Vermeesch, Joris Robert
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Funding
Funding for this research was provided by:
KU Leuven (C1-C14/22/125)
Fonds Wetenschappelijk Onderzoek (T-003819N)
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Article History
Received: 17 October 2025
Accepted: 9 September 2026
First Online: 5 October 2026
Declarations
Ethics approval and consent to participate: The study protocol was approved by the Ethics Committee of UZ Leuven (S64603) after consultation with the ethics committees of all participating sites and was performed in accordance with the Declaration of Helsinki. Given the absence of a therapeutic intervention, the study was not prospectively registered in an external trial registry. However, as participants were randomized to the diagnostic strategies, the study qualifies as an interventional trial following current recommendations from the International Committee of Medical Journal Editors. The trial was therefore retrospectively registered on (NCT07051213). The study was performed in accordance with the Declaration of Helsinki. Written informed consent was obtained from all participants or their legal representatives.
Consent for publication: Consent for publication was obtained from all participants or their legal representatives.
Competing interests: Illumina Inc. (San Diego, CA, USA) provided the consumables for genome sequencing of the samples used for the ring trial and the 284 probands and their parent(s) sequenced in the genome sequencing arm, as well as access to the Emedgene platform.The authors declare that they have no other competing interests.
