Journal article
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Atteeq U Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V Hunter, Zeineb Bakey, Mari J Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A Santoni, Hanan Hamamy, Kaman Wu, Fatma Al-Jasmi, Martin Helmstaedter Show all
Human Mutation | WILEY | Published : 2019
DOI: 10.1002/humu.23694
Grants
Awarded by Deutsche Forschungsgemeinschaft
Awarded by European Research Council (ERC StG TREAT-Cilia)
Awarded by European Research Council
Awarded by RCH Foundation
Awarded by National Health and Medical Research Council
Funding Acknowledgements
MS acknowledges funding from Radboudumc and RIMLS Nijmegen (Hypatia tenure track fellowship), the "Deutsche Forschungsgemeinschaft" (DFGCRC1140 KIDGEM), and the European Research Council (ERC StG TREAT-Cilia, grant no. 716344). SEA is supported by grants from the Swiss National Science Foundation, and the European Research Council (AdG 249968). The Acute Care Flagship of the Australian Genomics Health Alliances is supported by grants from the RCH Foundation (2017-906) and the National Health and Medical Research Council (GNT1113531).