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Authors
Ivashchenko, Véronique
de Groot, Michelle
Derks, Ronny
den Ouden, Amber
Khazeeva, Gelana
van den Heuvel, Simone
Timmermans, Raoul
Corominas Galbany, Jordi
Pfundt, Rolph
Hofste, Tom
Yntema, Helger
Vissers, Lisenka
Hoischen, Alexander
Hampstead, Juliet
Gilissen, Christian
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Article History
Received: 16 September 2024
Accepted: 29 June 2025
First Online: 26 January 2026
Declarations
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: Diagnostic laboratories can use (de-identified) samples from archived clinical samples to validate and optimize diagnostic assays as approved by the institutional review board “Commissie Mensgebonden Onderzoek Regio Arnhem-Nijmegen” under number (2020-7142). Therefore, the individuals in this study are shown without information about age or other identifiers besides biological sex. These methods are also in accordance with relevant guidelines and regulations of the Declaration of Helsinki.
: Patient samples, together with a basic phenotype description, were anonymized. The study was approved by the institutional review board “Commissie Mensgebonden Onderzoek Regio Arnhem-Nijmegen” under number 2011/188. All patients in this study have consented to their anonymized data being made available for research use.
: Part of the reagents for this study were provided by Pacific Biosciences. The authors declare that they have no competing interests
