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

S Jansen; S Geuer; R Pfundt; R Brough; P Ghongane; JC Herkert; EJ Marco; MH Willemsen; T Kleefstra; M Hannibal; JT Shieh; SA Lynch; F Flinter; DR Fitzpatrick; A Gardham; B Bernhard; N Ragge; R Newbury-Ecob; R Bernier; M Kvarnung; EAH Magnusson; Marja Wessels; Marjon van Slegtenhorst; K G Monaghan; P de Vries; JA Veltman; CJ Lord; L Vissers; BBA de Vries

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

S Jansen
, S Geuer
, R Pfundt
, R Brough
, P Ghongane
, JC Herkert
, EJ Marco
, MH Willemsen
, T Kleefstra
, M Hannibal
, JT Shieh
, SA Lynch
, F Flinter
, DR Fitzpatrick
, A Gardham
, B Bernhard
, N Ragge
, R Newbury-Ecob
, R Bernier
, M Kvarnung

EAH Magnusson, Marja Wessels, Marjon van Slegtenhorst, K G Monaghan, P de Vries, JA Veltman, CJ Lord, L Vissers, BBA de Vries

Clinical Genetics

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

56 Citations (Scopus)

Original language	Undefined/Unknown
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 - 2017

Research programs

EMC OR-01

Access to Document

10.1016/j.ajhg.2017.02.005

http://hdl.handle.net/1765/98864

Cite this

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., ... de Vries, BBA. (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

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language = "Undefined/Unknown",

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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, M , van Slegtenhorst, M, Monaghan, KG, de Vries, P, Veltman, JA, Lord, CJ, Vissers, L & de Vries, BBA 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

TY - JOUR

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

AU - Jansen, S

AU - Geuer, S

AU - Pfundt, R

AU - Brough, R

AU - Ghongane, P

AU - Herkert, JC

AU - Marco, EJ

AU - Willemsen, MH

AU - Kleefstra, T

AU - Hannibal, M

AU - Shieh, JT

AU - Lynch, SA

AU - Flinter, F

AU - Fitzpatrick, DR

AU - Gardham, A

AU - Bernhard, B

AU - Ragge, N

AU - Newbury-Ecob, R

AU - Bernier, R

AU - Kvarnung, M

AU - Magnusson, EAH

AU - Wessels, Marja

AU - van Slegtenhorst, Marjon

AU - Monaghan, K G

AU - de Vries, P

AU - Veltman, JA

AU - Lord, CJ

AU - Vissers, L

AU - de Vries, BBA

PY - 2017

Y1 - 2017

U2 - 10.1016/j.ajhg.2017.02.005

DO - 10.1016/j.ajhg.2017.02.005

M3 - Article

C2 - 28343630

SN - 0002-9297

VL - 100

SP - 650

EP - 658

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -