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Authors
Bertoli-Avella, Aida M. https://orcid.org/0000-0001-9544-1877
Radefeldt, Mandy
Al-Ali, Ruslan https://orcid.org/0000-0002-0189-3774
Pardo, Luba M. https://orcid.org/0000-0003-0684-3175
Lemke, Sabrina
Leubauer, Anika https://orcid.org/0000-0001-8402-5448
Polla, Daniel L. https://orcid.org/0000-0002-5552-3488
Hörnicke, Rebecca https://orcid.org/0009-0008-1461-2098
Almeida, Ligia S.
Kandaswamy, Krishna Kumar
Beetz, Christian https://orcid.org/0000-0001-7061-2895
Pinto Basto, Jorge
Bauer, Peter https://orcid.org/0000-0001-9414-4555
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Article History
Received: 26 June 2024
Revised: 20 December 2024
Accepted: 15 January 2025
First Online: 28 January 2025
Competing interests
: All authors are/were employees of CENTOGENE GmbH: Aida M. Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, Luba M. Pardo, Sabrina Lemke, Anika Leubauer, Daniel L. Polla, Rebecca Hörnicke, Ligia S. Almeida, Krishna Kumar Kandaswamy, Christian Beetz, Jorge Pinto Basto, Peter Bauer.
: The current study has been conducted within a diagnostic setting and in the second step, utilized deidentified data and samples – thus not requiring IRB approval in our jurisdiction. Written informed consent for genetic testing related to the disease(s) of the patient was obtained. Additionally, the consent form declaration included information regarding the storage of the data and further data processing for research purposes. Written informed consent was given by patients, legal guardians, or referring physicians. The informed consent form is available in English at .
