Jansen S et al. De novo truncating mutations in the last and penultimate exons of PPM1D cause an intellectual disability syndrome. Am J Hum Genet. 2017;100(4):650-658. PMID: 28343630.
Lelieveld SH et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci. 2016;19(9):1194-6. PMID: 27479843.
Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542(7642):433-438. PMID: 28135719.