@article{e9191fda04144f4fb07c1363eae01dfe,
title = "De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome",
keywords = "DOMINANT ROBINOW SYNDROME, SCHIZOPHRENIA, FRAMESHIFT, SPECTRUM, DISEASE, AUTISM, CANCER, BLOOD, GENE, WIP1",
author = "Sandra Jansen and Sinje Geuer and Rolph Pfundt and Rachel Brough and Priyanka Ghongane and Herkert, {Johanna C.} and Marco, {Elysa J.} and Willemsen, {Marjolein H.} and Tjitske Kleefstra and Mark Hannibal and Shieh, {Joseph T.} and Lynch, {Sally Ann} and Frances Flinter and FitzPatrick, {David R.} and Alice Gardham and Birgitta Bernhard and Nicola Ragge and Ruth Newbury-Ecob and Raphael Bernier and Malin Kvarnung and Magnusson, {E. A. Helena} and Wessels, {Marja W.} and {van Slegtenhorst}, {Marjon A.} and Monaghan, {Kristin G.} and {de Vries}, Petra and Veltman, {Joris A.} and Lord, {Christopher J.} and Vissers, {Lisenka E. L. M.} and {de Vries}, {Bert B. A.} and {Deciphering Dev Disorders Study}",
year = "2017",
month = apr,
day = "6",
doi = "10.1016/j.ajhg.2017.02.005",
language = "English",
volume = "100",
pages = "650--658",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",
}