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Authors
Cousin, Margot A. http://orcid.org/0000-0002-6119-9346
Veale, Emma L. http://orcid.org/0000-0002-6778-9929
Dsouza, Nikita R.
Tripathi, Swarnendu
Holden, Robyn G.
Arelin, Maria
Beek, Geoffrey
Bekheirnia, Mir Reza
Beygo, Jasmin
Bhambhani, Vikas
Bialer, Martin
Bigoni, Stefania
Boelman, Cyrus
Carmichael, Jenny
Courtin, Thomas
Cogne, Benjamin
Dabaj, Ivana
Doummar, Diane
Fazilleau, Laura
Ferlini, Alessandra http://orcid.org/0000-0001-8385-9870
Gavrilova, Ralitza H.
Graham, John M. Jr
Haack, Tobias B.
Juusola, Jane
Kant, Sarina G.
Kayani, Saima
Keren, Boris
Ketteler, Petra
Klöckner, Chiara
Koopmann, Tamara T.
Kruisselbrink, Teresa M.
Kuechler, Alma
Lambert, Laëtitia
Latypova, Xénia
Lebel, Robert Roger
Leduc, Magalie S.
Leonardi, Emanuela
Lewis, Andrea M.
Liew, Wendy
Machol, Keren
Mardini, Samir
McWalter, Kirsty
Mignot, Cyril
McLaughlin, Julie
Murgia, Alessandra
Narayanan, Vinodh
Nava, Caroline
Neuser, Sonja
Nizon, Mathilde
Ognibene, Davide
Park, Joohyun
Platzer, Konrad http://orcid.org/0000-0001-6127-6308
Poirsier, Céline
Radtke, Maximilian
Ramsey, Keri
Runke, Cassandra K.
Guillen Sacoto, Maria J.
Scaglia, Fernando
Shinawi, Marwan
Spranger, Stephanie
Tan, Ee Shien
Taylor, John
Trentesaux, Anne-Sophie
Vairo, Filippo
Willaert, Rebecca
Zadeh, Neda
Urrutia, Raul
Babovic-Vuksanovic, Dusica
Zimmermann, Michael T. http://orcid.org/0000-0001-7073-0525
Mathie, Alistair http://orcid.org/0000-0001-6094-2890
Klee, Eric W. http://orcid.org/0000-0003-2946-5795
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Funding
Funding for this research was provided by:
Deutsche Forschungsgemeinschaft (418081722, 433158657)
Center for Individualized Medicine, Mayo Clinic
The Linda T. and John A. Mellowes Endowed Innovation and Discovery Fund
Genomic Sciences and Precision Medicine Center of Medical College of Wisconsin
Advancing a Healthier Wisconsin (AHW) Endowment
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Article History
Received: 23 November 2021
Accepted: 19 May 2022
First Online: 13 June 2022
Declarations
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: This study was approved by the Mayo Clinic Institutional Review Board (IRB# 12-009346) and local Ethics Committees and conformed to the Helsinki Declaration. All families provided written informed consent to participate in this study. Family 9 was recruited to the Genomics England 100,000 Genomes Project, with written informed consent from parents and children. Families F18 and F19 were previously published [CitationRef removed] and also provided written informed consent to participate in this study to provide updated clinical information. Families F18-F22, F25, and F28 were previously published [CitationRef removed–CitationRef removed] and no new data were provided for this study.
: Written informed consent was obtained from all participants to publish the identifiable data and clinical information in this study.
: JJ, KMc, MJGS, and RW are employees of GeneDx. AML and GB are current shareholders and employees of Invitae. The remaining authors declare that they have no competing interests.
