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Authors
Jost, Céline https://orcid.org/0009-0005-2130-6900
Busa, Tiffany
Wegner, Daniel
Shinawi, Marwan https://orcid.org/0000-0003-1329-4100
Schaefer, Elise
Piton, Amélie https://orcid.org/0000-0003-0408-7468
Schluth-Bolard, Caroline https://orcid.org/0000-0002-2279-4273
Charles, Perrine
Keren, Boris
Mayerhanser, Katharina
Brunet, Theresa https://orcid.org/0000-0002-5183-780X
Schatz, Ulrich https://orcid.org/0009-0008-6596-128X
Neil, Jennifer E.
Walsh, Christopher A. https://orcid.org/0000-0002-0156-2238
Sisco, Kathleen
J. Paul, Alexander
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Lee, Chung
Dykzeul, Natalie
Bonner, Devon
Bernstein, Jonathan A. https://orcid.org/0000-0001-5369-346X
Sutcliffe, Erin
Wentzensen, Ingrid M.
Froehlich, Catherine
Liebler, Kaleigh
Galvin Parton, Patricia
Weiss-Burns, Jody
Sagnol, Chloé
Delanne, Julian
Racine, Caroline https://orcid.org/0000-0003-2378-5982
Thauvin-Robinet, Christel https://orcid.org/0000-0002-4155-139X
Safraou, Hana
Tran Mau-Them, Frédéric https://orcid.org/0000-0002-3795-9456
Duffourd, Yannis
Bruel, Ange-Line https://orcid.org/0000-0002-0526-465X
Faivre, Laurence https://orcid.org/0000-0001-9770-444X
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Funding
Funding for this research was provided by:
Howard Hughes Medical Institute
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Article History
Received: 31 July 2025
Revised: 26 November 2025
Accepted: 7 January 2026
First Online: 28 January 2026
Competing interests
: ES and IMW are employees of and may own stock in GeneDx. Other authors declare no competing financial interest. URL. AURAGEN platform . GeneMatcher . Denovo-db . Decipher
: Our data were collected retrospectively and anonymously. According to French law, this study qualifies as a research project not involving human subjects (RNIPH). It was based on the re-use of available data and conducted in accordance with the principles of CNIL MR-004 guidelines, therefore not requiring any specific ethics committee decision. Our establishment’s clinical research department was nevertheless consulted. The study was carried out in accordance with the French Data Protection Act 78-17 of January 6, 1978, as amended, and the General Regulation on the Protection of Personal Data, adopted at the European level and into force on May 25, 2018. Written informed consent for publication of clinical data and images was obtained from the legal guardians of all participants. The study was conducted in accordance with the Declaration of Helsinki and applicable data protection regulations.
