Bibliographical noteKAUST Repository Item: Exported on 2022-12-12
Acknowledgements: We thank the families and affected individuals for taking part in the study. We thank the University of Burgundy Centre de Calcul (CCuB) for technical support and management of the informatics platform. We thank the “Centre de Ressources Biologiques Ferdinand Cabanne” (CHU Dijon) for sample biobanking. This work was supported by grants from Dijon University Hospital, the ISITE-BFC (PIA ANR), and the European Union through the FEDER programs, EJP-RD (NSEuroNET), AIRC (IG21614), and Italian Ministry of Health (5x1000). Sequencing for individual 15 was funded by the Institute for Information and Communications Technology Promotion (IITP) grant from the Korean government (MSIT) (2018-0-00861, Intelligent SW Technology Development for Medical Data Analysis). This study makes use of DECIPHER (http://decipher.sanger.ac.uk), which is funded by the Wellcome (www.ddduk.org/access.html).55 This research was made possible through access to the data and findings generated by the 100KGP. The 100KGP is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100KGP is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. The 100KGP uses data provided by individuals and collected by the National Health Service as part of their care and support. Several authors of this publication are members of the European Reference Network for Developmental Anomalies and Intellectual Disability (ERN-ITHACA). The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement no. 779257.
ASJC Scopus subject areas