Schmid, Cosima M. https://orcid.org/0009-0006-5562-199X
Gregor, Anne
Ruiz, Anna https://orcid.org/0000-0001-7314-5962
Manso Bazús, Carmen
Herman, Isabella
Ammouri, Farah
Kotzaeridou, Urania
McNiven, Vanda
Dupuis, Lucie https://orcid.org/0000-0002-6068-8199
Steindl, Katharina
Begemann, Anaïs https://orcid.org/0000-0001-6762-0819
Rauch, Anita https://orcid.org/0000-0003-2930-3163
Suter, Aude-Annick
Isidor, Bertrand
Mercier, Sandra
Nizon, Mathilde https://orcid.org/0000-0003-2170-4210
Cogné, Benjamin https://orcid.org/0000-0002-5503-6292
Deb, Wallid https://orcid.org/0000-0002-5103-8573
Besnard, Thomas
Haack, Tobias B. https://orcid.org/0000-0001-6033-4836
Falb, Ruth J.
Müller, Amelie J.
Linden, Tobias
Haldeman-Englert, Chad R.
Ockeloen, Charlotte W. https://orcid.org/0000-0003-0329-1520
Mattioli, Francesca https://orcid.org/0000-0002-1595-4320
Reymond, Alexandre https://orcid.org/0000-0003-1030-8327
Ibrahim, Nazia
Naz, Shagufta
Lacaze, Elodie
Bassetti, Jennifer A.
Hoefele, Julia https://orcid.org/0000-0002-7917-7129
Brunet, Theresa https://orcid.org/0000-0002-5183-780X
Riedhammer, Korbinian M. https://orcid.org/0000-0002-7503-5801
Elloumi, Houda Z.
Person, Richard
Zou, Fanggeng
Kahle, Juliette J.
Cremer, Kirsten
Schmidt, Axel https://orcid.org/0000-0002-9780-7243
Delrue, Marie-Ange
Almeida, Pedro M.
Ramos, Fabiana
Srivastava, Siddharth https://orcid.org/0000-0001-7008-1879
Quinlan, Aisling
Robertson, Stephen https://orcid.org/0000-0002-5181-7809
Manka, Eva
Kuechler, Alma
Spranger, Stephanie
Nowaczyk, Malgorzata J. M.
Elshafie, Reem M.
Alsharhan, Hind
Hillman, Paul R.
Dunnington, Leslie A.
Braakman, Hilde M. H. https://orcid.org/0000-0001-8053-5918
McKee, Shane
Moresco, Angelica https://orcid.org/0000-0002-8827-6196
Ignat, Andrea-Diana
Newbury-Ecob, Ruth
Banneau, Guillaume
Patat, Olivier
Kuerbitz, Jeffrey https://orcid.org/0000-0003-4821-6305
Rzucidlo, Susan
Sell, Susan S.
Gordon, Patricia
Schuhmann, Sarah
Reis, André https://orcid.org/0000-0002-6301-6363
Halleb, Yosra
Stoeva, Radka https://orcid.org/0000-0002-6383-8201
Keren, Boris
Al Masseri, Zainab https://orcid.org/0000-0002-6202-3721
Tümer, Zeynep https://orcid.org/0000-0002-4777-5802
Hammer-Hansen, Sophia https://orcid.org/0000-0003-1298-7490
Krüger Sølyst, Sofus https://orcid.org/0009-0006-3044-6312
Steigerwald, Connolly G.
Abreu, Nicolas J. https://orcid.org/0000-0002-8288-6268
Faust, Helene
Müller-Nedebock, Amica
Tran Mau-Them, Frédéric https://orcid.org/0000-0002-3795-9456
Sticht, Heinrich
Zweier, Christiane https://orcid.org/0000-0001-8002-2020
Funding for this research was provided by:
Deutsche Forschungsgemeinschaft (ZW184/6-1)
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (31003A_182632, IZSTZ0_216615)
Article History
Received: 23 April 2024
Revised: 30 August 2024
Accepted: 26 November 2024
First Online: 12 December 2024
Competing interests
: HZE, RP, FZ and JK are employees of GeneDx, LLC. The remaining authors declare no conflicts of interest.
: The research protocol fulfilled the requirements of the local institutional ethics committee (Kantonale Ethikkommission Bern, 2021-01396). Consent for publication of genetic and clinical data, as well as photographs was obtained from the individuals, their parents, or legal guardians, respectively. The study complied with the principles set out in the Declaration of Helsinki.