Parenti, Ilaria https://orcid.org/0000-0002-1825-6237
Lehalle, Daphné https://orcid.org/0000-0002-2193-8685
Nava, Caroline https://orcid.org/0000-0003-1272-0518
Torti, Erin https://orcid.org/0000-0001-5790-1051
Leitão, Elsa https://orcid.org/0000-0001-5051-9714
Person, Richard
Mizuguchi, Takeshi https://orcid.org/0000-0003-4998-1244
Matsumoto, Naomichi https://orcid.org/0000-0001-9846-6500
Kato, Mitsuhiro https://orcid.org/0000-0003-1485-8553
Nakamura, Kazuyuki https://orcid.org/0000-0003-0266-9341
de Man, Stella A. https://orcid.org/0000-0002-3895-4649
Cope, Heidi https://orcid.org/0000-0003-0586-9277
Shashi, Vandana
,
Friedman, Jennifer
Joset, Pascal
Steindl, Katharina
Rauch, Anita https://orcid.org/0000-0003-2930-3163
Muffels, Irena
van Hasselt, Peter M. https://orcid.org/0000-0001-9821-8398
Petit, Florence https://orcid.org/0000-0002-1368-1023
Smol, Thomas https://orcid.org/0000-0002-0119-5896
Le Guyader, Gwenaël
Bilan, Frédéric https://orcid.org/0000-0001-8589-6018
Sorlin, Arthur https://orcid.org/0000-0001-8008-9145
Vitobello, Antonio https://orcid.org/0000-0003-3717-8374
Philippe, Christophe https://orcid.org/0000-0001-7098-6520
van de Laar, Ingrid M. B. H. https://orcid.org/0000-0002-2523-1230
van Slegtenhorst, Marjon A.
Campeau, Philippe M. https://orcid.org/0000-0001-9713-7107
Au, Ping Yee Billie https://orcid.org/0000-0002-9533-7217
Nakashima, Mitsuko https://orcid.org/0000-0001-7941-1774
Saitsu, Hirotomo https://orcid.org/0000-0003-0723-0960
Yamamoto, Tatsuya https://orcid.org/0000-0002-1277-5298
Nomura, Yumiko
Louie, Raymond J. https://orcid.org/0000-0002-6788-1151
Lyons, Michael J. https://orcid.org/0000-0002-8644-5507
Dobson, Amy
Plomp, Astrid S.
Motazacker, M. Mahdi
Kaiser, Frank J.
Timberlake, Andrew T. https://orcid.org/0000-0002-8926-9692
Fuchs, Sabine A. https://orcid.org/0000-0001-9147-2406
Depienne, Christel https://orcid.org/0000-0002-7212-9554
Mignot, Cyril https://orcid.org/0000-0002-3462-3463
Funding for this research was provided by:
Fondation Maladies Rares
Bio-Psy Labex
Investissements d’avenir” program ANR-10-IAIHU-06
Japan Agency for Medical Research and Development (JP20ek0109486, JP20dm0107090, JP20ek0109301, JP20ek0109348, JP20kk0205012)
JSPS KAKENHI (JP17H01539, JP20K08164)
Intramural research grants for Neurological and Psychiatric Disorders of NCNP from the Ministry of Health, Labour and Welfare (30-6 and 30-7)
Takeda Science Foundation
NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director (U01HG007672)
Universität Duisburg-Essen
Article History
Received: 29 January 2021
Accepted: 15 April 2021
First Online: 4 May 2021
Declarations
:
: Dr. Louie is a clinical laboratory director in molecular genetics and the Greenwood Genetic Center receives fee income from clinical laboratory testing. Erin Torti and Richard Person are employees of GeneDx, Inc. All other authors declare no conflict of interest.
: This research study was approved by INSERM (RBM C12-06). Ethics approval were locally obtained for genetic analyses and/or data sharing for additional patients. Genetic analyses and patient inclusion were performed in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments.
: Not applicable.
: Informed consent for genetic analyses was obtained from all individual participants included in this study or their legal guardians.
: Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.