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

Sandra Jansen; Sinje Geuer; Rolph Pfundt; Rachel Brough; Priyanka Ghongane; Johanna C. Herkert; Elysa J. Marco; Marjolein H. Willemsen; Tjitske Kleefstra; Mark Hannibal; Joseph T. Shieh; Sally Ann Lynch; Frances Flinter; David R. FitzPatrick; Alice Gardham; Birgitta Bernhard; Nicola Ragge; Ruth Newbury-Ecob; Raphael Bernier; Malin Kvarnung; E. A. Helena Magnusson; Marja W. Wessels; Marjon A. van Slegtenhorst; Kristin G. Monaghan; Petra de Vries; Joris A. Veltman; Christopher J. Lord; Lisenka E. L. M. Vissers; Bert B. A. de Vries; Deciphering Dev Disorders Study

doi:10.1016/j.ajhg.2017.02.005

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

Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T. Shieh, Sally Ann Lynch, Frances Flinter, David R. FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin KvarnungE. A. Helena Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E. L. M. Vissers, Bert B. A. de Vries^*, Deciphering Dev Disorders Study

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

31 Citations (Web of Science)

Original language	English
Pages (from-to)	650-658
Number of pages	9
Journal	American Journal of Human Genetics
Volume	100
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2017.02.005
Publication status	Published - 6 Apr 2017

Keywords

DOMINANT ROBINOW SYNDROME
SCHIZOPHRENIA
FRAMESHIFT
SPECTRUM
DISEASE
AUTISM
CANCER
BLOOD
GENE
WIP1

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10.1016/j.ajhg.2017.02.005

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Jansen, S., Geuer, S., Pfundt, R., Brough, R., Ghongane, P., Herkert, J. C., Marco, E. J., Willemsen, M. H., Kleefstra, T., Hannibal, M., Shieh, J. T., Lynch, S. A., Flinter, F., FitzPatrick, D. R., Gardham, A., Bernhard, B., Ragge, N., Newbury-Ecob, R., Bernier, R., ... Deciphering Dev Disorders Study (2017). De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. American Journal of Human Genetics, 100(4), 650-658. https://doi.org/10.1016/j.ajhg.2017.02.005

Jansen, Sandra ; Geuer, Sinje ; Pfundt, Rolph ; Brough, Rachel ; Ghongane, Priyanka ; Herkert, Johanna C. ; Marco, Elysa J. ; Willemsen, Marjolein H. ; Kleefstra, Tjitske ; Hannibal, Mark ; Shieh, Joseph T. ; Lynch, Sally Ann ; Flinter, Frances ; FitzPatrick, David R. ; Gardham, Alice ; Bernhard, Birgitta ; Ragge, Nicola ; Newbury-Ecob, Ruth ; Bernier, Raphael ; Kvarnung, Malin ; Magnusson, E. A. Helena ; Wessels, Marja W. ; van Slegtenhorst, Marjon A. ; Monaghan, Kristin G. ; de Vries, Petra ; Veltman, Joris A. ; Lord, Christopher J. ; Vissers, Lisenka E. L. M. ; de Vries, Bert B. A. ; Deciphering Dev Disorders Study. / De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. In: American Journal of Human Genetics. 2017 ; Vol. 100, No. 4. pp. 650-658.

@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",

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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, EAH, Wessels, MW, van Slegtenhorst, MA, Monaghan, KG, de Vries, P, Veltman, JA, Lord, CJ, Vissers, LELM, de Vries, BBA & Deciphering Dev Disorders Study 2017, 'De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome', American Journal of Human Genetics, vol. 100, no. 4, pp. 650-658. https://doi.org/10.1016/j.ajhg.2017.02.005

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. / Jansen, Sandra; Geuer, Sinje; Pfundt, Rolph; Brough, Rachel; Ghongane, Priyanka; Herkert, Johanna C.; Marco, Elysa J.; Willemsen, Marjolein H.; Kleefstra, Tjitske; Hannibal, Mark; Shieh, Joseph T.; Lynch, Sally Ann; Flinter, Frances; FitzPatrick, David R.; Gardham, Alice; Bernhard, Birgitta; Ragge, Nicola; Newbury-Ecob, Ruth; Bernier, Raphael; Kvarnung, Malin; Magnusson, E. A. Helena; Wessels, Marja W.; van Slegtenhorst, Marjon A.; Monaghan, Kristin G.; de Vries, Petra; Veltman, Joris A.; Lord, Christopher J.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Deciphering Dev Disorders Study.

In: American Journal of Human Genetics, Vol. 100, No. 4, 06.04.2017, p. 650-658.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

AU - Jansen, Sandra

AU - Geuer, Sinje

AU - Pfundt, Rolph

AU - Brough, Rachel

AU - Ghongane, Priyanka

AU - Herkert, Johanna C.

AU - Marco, Elysa J.

AU - Willemsen, Marjolein H.

AU - Kleefstra, Tjitske

AU - Hannibal, Mark

AU - Shieh, Joseph T.

AU - Lynch, Sally Ann

AU - Flinter, Frances

AU - FitzPatrick, David R.

AU - Gardham, Alice

AU - Bernhard, Birgitta

AU - Ragge, Nicola

AU - Newbury-Ecob, Ruth

AU - Bernier, Raphael

AU - Kvarnung, Malin

AU - Magnusson, E. A. Helena

AU - Wessels, Marja W.

AU - van Slegtenhorst, Marjon A.

AU - Monaghan, Kristin G.

AU - de Vries, Petra

AU - Veltman, Joris A.

AU - Lord, Christopher J.

AU - Vissers, Lisenka E. L. M.

AU - de Vries, Bert B. A.

AU - Deciphering Dev Disorders Study

PY - 2017/4/6

Y1 - 2017/4/6

KW - DOMINANT ROBINOW SYNDROME

KW - SCHIZOPHRENIA

KW - FRAMESHIFT

KW - SPECTRUM

KW - DISEASE

KW - AUTISM

KW - CANCER

KW - BLOOD

KW - GENE

KW - WIP1

U2 - 10.1016/j.ajhg.2017.02.005

DO - 10.1016/j.ajhg.2017.02.005

M3 - Article

C2 - 28343630

VL - 100

SP - 650

EP - 658

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 4

ER -