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Authors
Albuainain, Fatimah
Shi, Yuwei https://orcid.org/0009-0002-5945-3760
Lor-Zade, Sarah
Hüffmeier, Ulrike https://orcid.org/0000-0001-6448-4671
Pauly, Melissa https://orcid.org/0000-0001-8875-0022
Reis, André https://orcid.org/0000-0002-6301-6363
Faivre, Laurence
Maraval, Julien https://orcid.org/0009-0003-6744-5821
Bruel, Ange-Line
Them, Frédéric Tran Mau https://orcid.org/0000-0002-3795-9456
Haack, Tobias B.
Grasshoff, Ute
Horber, Veronka
Schot, Rachel https://orcid.org/0000-0001-9578-4095
van Slegtenhorst, Marjon
Wilke, Martina
Barakat, Tahsin Stefan https://orcid.org/0000-0003-1231-1562
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Article History
Received: 7 September 2023
Revised: 30 November 2023
Accepted: 19 December 2023
First Online: 10 January 2024
Competing interests
: The authors declare no competing interests.
: For the Erasmus MC, use of genome-wide investigations for diagnostics was IRB approved (MEC-2012–387). For individual 2, ethics approval (Ethics committee of the Medical faculty of the FAU Erlangen-Nürnberg, No. 253_15B) was the basis to perform extended exome analyses. For the University of Tübingen, analysis of diagnostic exome and genome datasets for prioritization of clinically relevant variants was approved by the IRB (#066/2021BO2).
