Engel, Camille https://orcid.org/0000-0003-1531-7628
Rendek, Michaela
Assoumani, Jessica
Argilli, Emanuela
Ariani, Francesca
Avice-Denizet, Anne-Laude
Bijlsmaa, Emilia K.
Blanc, Pierre https://orcid.org/0009-0003-8965-7171
Bruno, Lucia Pia
Callewaert, Bert https://orcid.org/0000-0002-9743-4205
Capra, Valeria https://orcid.org/0000-0002-3097-0388
Carullo, Michele https://orcid.org/0009-0008-0915-3923
Chesneau, Bertrand https://orcid.org/0000-0001-9729-7346
Coppens, Sandra
Curry, Cynthia
Dale, Breanne https://orcid.org/0000-0001-5034-7457
Dahlen, Eric
Delahaye-Duriez, Andrée https://orcid.org/0000-0003-4324-7372
Denommé-Pichon, Anne-Sophie https://orcid.org/0000-0002-8986-8222
Demeer, Bénédicte
Dvořáková, Lenka
Fischer, Jan https://orcid.org/0009-0002-7334-0842
Geneviève, David https://orcid.org/0000-0001-6928-6287
Giacomini, Thea
Handrup, Mette M.
Heron, Delphine
Hüning, Irina
Iacomino, Michelle
Isidor, Bertrand
Keren, Boris
Kmoch, Stanislav https://orcid.org/0000-0002-6239-707X
Koolen, David A. https://orcid.org/0000-0002-2152-4626
Kübler, Andrea
Laštůvková, Jana
Le, Carolyn https://orcid.org/0009-0001-1532-7685
Levy, Jonathan https://orcid.org/0000-0002-8822-816X
Rizzo, Caterina Lo
Maitz, Silvia
Marlin, Sandrine https://orcid.org/0000-0002-4115-9806
Mignot, Cyril
Mirzaa, Ghayda https://orcid.org/0000-0003-2648-7657
Nagel, Inga
Neuens, Sebastian https://orcid.org/0000-0003-2979-3764
Nosková, Lenka
Pao, Emily
Pecková, Anna
Plaisancie, Julie https://orcid.org/0000-0001-7551-248X
Porrmann, Joseph
Privitera, Flavia https://orcid.org/0000-0002-0316-4903
Reis, André https://orcid.org/0000-0002-6301-6363
Renieri, Alessandra
Rio, Marlène https://orcid.org/0000-0003-2049-5058
Rippert, Alyssa
Ryba, Lukáš
Scala, Marcello https://orcid.org/0000-0003-2194-7239
Schieving, Jolanda H.
Sherr, Elliott H.
Shuen, Andrew https://orcid.org/0000-0001-6094-4394
Sidlow, Richard
Smol, Thomas https://orcid.org/0000-0002-0119-5896
Soblet, Julie
Striano, Pasquale https://orcid.org/0000-0002-6065-1476
Suri, Mohnish
Syryn, Hannes
Tran Mau-Them, Frédéric
Travessa, Andre M.
Van Gils, Julien https://orcid.org/0000-0003-1497-9363
Vasileiou, Georgia
Verseput, Jolijn J. A.
Vilain, Catheline
Vincent-Delorme, Catherine
Vyhnálková, Emílie
Wakeling, Emma L.
Zacher, Pia https://orcid.org/0000-0002-0211-5763
Zara, Federico https://orcid.org/0000-0001-9744-5222
Kuentz, Paul https://orcid.org/0000-0003-2814-6303
Piard, Juliette https://orcid.org/0000-0001-5244-5325
Article History
Received: 23 June 2024
Revised: 8 February 2025
Accepted: 20 May 2025
First Online: 25 June 2025
Competing interests
: The authors declare no competing interests.
: Individuals were referred by clinical geneticists for genetic testing as part of routine clinical care. All patients enrolled and/or their legal representative have signed informed consent for use of data and/or photographs.