De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

2017
https://researcherprofiles.org/profile/1209225
28343630
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA, Deciphering Developmental Disorders Study , Lord CJ, Vissers LE, de Vries BB