Journal article

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

BWM van Bon, BP Coe, R Bernier, C Green, J Gerdts, K Witherspoon, T Kleefstra, MH Willemsen, R Kumar, P Bosco, M Fichera, D Li, D Amaral, F Cristofoli, H Peeters, E Haan, C Romano, HC Mefford, I Scheffer, J Gecz Show all

Molecular Psychiatry | NATURE PUBLISHING GROUP | Published : 2016

University of Melbourne Researchers

Grants

Awarded by Dutch Organisation for Health Research and Development: ZON-MW


Awarded by Simons Foundation Autism Research Initiative


Awarded by National Institutes of Health (NIH)


Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT


Awarded by NATIONAL INSTITUTE OF MENTAL HEALTH


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

We thank the patients and their parents for participation. We are grateful to all of the families at the participating Simons Simplex Collection (SSC) sites, as well as the principal investigators (A Beaudet, R Bernier, J Constantino, E Cook, E Fombonne, D Geschwind, R Goin-Kochel, E Hanson, D Grice, A Klin, D Ledbetter, C Lord, C Martin, D Martin, R Maxim, J Miles, O Ousley, K Pelphrey, B Peterson, J Piggot, C Saulnier, M State, W Stone, J Sutcliffe, C Walsh, Z Warren, E Wijsman). We appreciate obtaining access to phenotypic data on the Simons Foundation Autism Research Initiative (SFARI) Base. Approved researchers can obtain the SSC population dataset described in this study (https://ordering.base.sfari.org/similar to browse_collection/archive[ssc_v13]/ui: view) by applying at https://base.sfari.org. This study was financially supported by (1) the Ter Meulen Fonds (stipendium to BvB), (2) the Dutch Organisation for Health Research and Development: ZON-MW grants 917-86-319 (BBAdV) and 912-12-109 (BBAdV), and (3) the Simons Foundation Autism Research Initiative (SFARI 303241) and National Institutes of Health (NIH) grant R01MH101221 to EEE. EEE is an Investigator of the Howard Hughes Medical Institute. FC is a PhD aspirant of the Research Foundation Flanders (FWO).