De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Servi J. C. Stevens; Vyne van der Schoot; Magalie S. Leduc; Tuula Rinne; Seema R. Lalani; Marjan M. Weiss; Johanna M. van Hagen; Augusta M. A. Lachmeijer; Sylvia G. Stockler-Ipsiroglu; Anna Lehman; Han G. Brunner; CAUSES Study

doi:10.1002/humu.23541

De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Servi J. C. Stevens^*, Vyne van der Schoot, Magalie S. Leduc, Tuula Rinne, Seema R. Lalani, Marjan M. Weiss, Johanna M. van Hagen, Augusta M. A. Lachmeijer, Sylvia G. Stockler-Ipsiroglu, Anna Lehman, Han G. Brunner, CAUSES Study

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	1014-1023
Number of pages	10
Journal	Human Mutation
Volume	39
Issue number	7
DOIs	https://doi.org/10.1002/humu.23541
Publication status	Published - 1 Jul 2018

Keywords

chromatin remodeling
de novo mutation
exome sequencing
intellectual disability
SET nuclear proto-oncogene
PROTEIN SET
ONCOPROTEIN
BETA
DNA
DEMETHYLATION
TRANSCRIPTION
LOCALIZATION
DISORDERS
MIGRATION
CHAPERONE

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10.1002/humu.23541

Cite this

Stevens, S. J. C., van der Schoot, V., Leduc, M. S., Rinne, T., Lalani, S. R., Weiss, M. M., van Hagen, J. M., Lachmeijer, A. M. A., Stockler-Ipsiroglu, S. G., Lehman, A., Brunner, H. G., & CAUSES Study (2018). De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. Human Mutation, 39(7), 1014-1023. https://doi.org/10.1002/humu.23541

Stevens, Servi J. C. ; van der Schoot, Vyne ; Leduc, Magalie S. ; Rinne, Tuula ; Lalani, Seema R. ; Weiss, Marjan M. ; van Hagen, Johanna M. ; Lachmeijer, Augusta M. A. ; Stockler-Ipsiroglu, Sylvia G. ; Lehman, Anna ; Brunner, Han G. ; CAUSES Study. / De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. In: Human Mutation. 2018 ; Vol. 39, No. 7. pp. 1014-1023.

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title = "De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability",

keywords = "chromatin remodeling, de novo mutation, exome sequencing, intellectual disability, SET nuclear proto-oncogene, PROTEIN SET, ONCOPROTEIN, BETA, DNA, DEMETHYLATION, TRANSCRIPTION, LOCALIZATION, DISORDERS, MIGRATION, CHAPERONE",

author = "Stevens, {Servi J. C.} and {van der Schoot}, Vyne and Leduc, {Magalie S.} and Tuula Rinne and Lalani, {Seema R.} and Weiss, {Marjan M.} and {van Hagen}, {Johanna M.} and Lachmeijer, {Augusta M. A.} and Stockler-Ipsiroglu, {Sylvia G.} and Anna Lehman and Brunner, {Han G.} and {CAUSES Study}",

year = "2018",

month = jul,

day = "1",

doi = "10.1002/humu.23541",

language = "English",

volume = "39",

pages = "1014--1023",

journal = "Human Mutation",

issn = "1059-7794",

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Stevens, SJC, van der Schoot, V, Leduc, MS, Rinne, T, Lalani, SR, Weiss, MM, van Hagen, JM, Lachmeijer, AMA, Stockler-Ipsiroglu, SG, Lehman, A, Brunner, HG & CAUSES Study 2018, 'De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability', Human Mutation, vol. 39, no. 7, pp. 1014-1023. https://doi.org/10.1002/humu.23541

De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. / Stevens, Servi J. C.; van der Schoot, Vyne; Leduc, Magalie S.; Rinne, Tuula; Lalani, Seema R.; Weiss, Marjan M.; van Hagen, Johanna M.; Lachmeijer, Augusta M. A.; Stockler-Ipsiroglu, Sylvia G.; Lehman, Anna; Brunner, Han G.; CAUSES Study.

In: Human Mutation, Vol. 39, No. 7, 01.07.2018, p. 1014-1023.

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

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AU - Stevens, Servi J. C.

AU - van der Schoot, Vyne

AU - Leduc, Magalie S.

AU - Rinne, Tuula

AU - Lalani, Seema R.

AU - Weiss, Marjan M.

AU - van Hagen, Johanna M.

AU - Lachmeijer, Augusta M. A.

AU - Stockler-Ipsiroglu, Sylvia G.

AU - Lehman, Anna

AU - Brunner, Han G.

AU - CAUSES Study

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KW - chromatin remodeling

KW - de novo mutation

KW - exome sequencing

KW - intellectual disability

KW - SET nuclear proto-oncogene

KW - PROTEIN SET

KW - ONCOPROTEIN

KW - BETA

KW - DNA

KW - DEMETHYLATION

KW - TRANSCRIPTION

KW - LOCALIZATION

KW - DISORDERS

KW - MIGRATION

KW - CHAPERONE

U2 - 10.1002/humu.23541

DO - 10.1002/humu.23541

M3 - Article

C2 - 29688601

VL - 39

SP - 1014

EP - 1023

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

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