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

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).