De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

W. M. R. van den Akker; I. Brummelman; L. M. Martis; R. N. Timmermans; R. Pfundt; T. Kleefstra; M. H. Willemsen; E. H. Gerkes; J. C. Herkert; A. J. van Essen; P. Rump; F. Vansenne; P. A. Terhal; M. M. van Haelst; I. Cristian; C. E. Turner; M. T. Cho; A. Begtrup; R. Willaert; E. Fassi; K. L. I. van Gassen; A. P. A. Stegmann; B. B. A. de Vries; J. H. M. Schuurs-Hoeijmakers

doi:10.1111/cge.13225

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

W. M. R. van den Akker, I. Brummelman, L. M. Martis, R. N. Timmermans, R. Pfundt, T. Kleefstra, M. H. Willemsen, E. H. Gerkes, J. C. Herkert, A. J. van Essen, P. Rump, F. Vansenne, P. A. Terhal, M. M. van Haelst, I. Cristian, C. E. Turner, M. T. Cho, A. Begtrup, R. Willaert, E. FassiK. L. I. van Gassen, A. P. A. Stegmann, B. B. A. de Vries, J. H. M. Schuurs-Hoeijmakers^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › Academic › peer-review

Original language	English
Pages (from-to)	1000-1007
Number of pages	8
Journal	Clinical Genetics
Volume	93
Issue number	5
DOIs	https://doi.org/10.1111/cge.13225
Publication status	Published - 1 May 2018

Keywords

CDK13
congenital heart defects
de novo variants
developmental delay
facial dysmorphism
intellectual disability
splice-site variant
whole-exome sequencing
INTELLECTUAL DISABILITY
MUTATIONS
EXPRESSION
DOMAIN
GENES

Access to Document

10.1111/cge.13225

Cite this

van den Akker, W. M. R., Brummelman, I., Martis, L. M., Timmermans, R. N., Pfundt, R., Kleefstra, T., Willemsen, M. H., Gerkes, E. H., Herkert, J. C., van Essen, A. J., Rump, P., Vansenne, F., Terhal, P. A., van Haelst, M. M., Cristian, I., Turner, C. E., Cho, M. T., Begtrup, A., Willaert, R., ... Schuurs-Hoeijmakers, J. H. M. (2018). De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Clinical Genetics, 93(5), 1000-1007. https://doi.org/10.1111/cge.13225

van den Akker, W. M. R. ; Brummelman, I. ; Martis, L. M. ; Timmermans, R. N. ; Pfundt, R. ; Kleefstra, T. ; Willemsen, M. H. ; Gerkes, E. H. ; Herkert, J. C. ; van Essen, A. J. ; Rump, P. ; Vansenne, F. ; Terhal, P. A. ; van Haelst, M. M. ; Cristian, I. ; Turner, C. E. ; Cho, M. T. ; Begtrup, A. ; Willaert, R. ; Fassi, E. ; van Gassen, K. L. I. ; Stegmann, A. P. A. ; de Vries, B. B. A. ; Schuurs-Hoeijmakers, J. H. M. / De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. In: Clinical Genetics. 2018 ; Vol. 93, No. 5. pp. 1000-1007.

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title = "De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review",

keywords = "CDK13, congenital heart defects, de novo variants, developmental delay, facial dysmorphism, intellectual disability, splice-site variant, whole-exome sequencing, INTELLECTUAL DISABILITY, MUTATIONS, EXPRESSION, DOMAIN, GENES",

author = "{van den Akker}, {W. M. R.} and I. Brummelman and Martis, {L. M.} and Timmermans, {R. N.} and R. Pfundt and T. Kleefstra and Willemsen, {M. H.} and Gerkes, {E. H.} and Herkert, {J. C.} and {van Essen}, {A. J.} and P. Rump and F. Vansenne and Terhal, {P. A.} and {van Haelst}, {M. M.} and I. Cristian and Turner, {C. E.} and Cho, {M. T.} and A. Begtrup and R. Willaert and E. Fassi and {van Gassen}, {K. L. I.} and Stegmann, {A. P. A.} and {de Vries}, {B. B. A.} and Schuurs-Hoeijmakers, {J. H. M.}",

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language = "English",

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van den Akker, WMR, Brummelman, I, Martis, LM, Timmermans, RN, Pfundt, R, Kleefstra, T, Willemsen, MH, Gerkes, EH, Herkert, JC, van Essen, AJ, Rump, P, Vansenne, F, Terhal, PA, van Haelst, MM, Cristian, I, Turner, CE, Cho, MT, Begtrup, A, Willaert, R, Fassi, E, van Gassen, KLI, Stegmann, APA, de Vries, BBA & Schuurs-Hoeijmakers, JHM 2018, 'De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review', Clinical Genetics, vol. 93, no. 5, pp. 1000-1007. https://doi.org/10.1111/cge.13225

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. / van den Akker, W. M. R.; Brummelman, I.; Martis, L. M.; Timmermans, R. N.; Pfundt, R.; Kleefstra, T.; Willemsen, M. H.; Gerkes, E. H.; Herkert, J. C.; van Essen, A. J.; Rump, P.; Vansenne, F.; Terhal, P. A.; van Haelst, M. M.; Cristian, I.; Turner, C. E.; Cho, M. T.; Begtrup, A.; Willaert, R.; Fassi, E.; van Gassen, K. L. I.; Stegmann, A. P. A.; de Vries, B. B. A.; Schuurs-Hoeijmakers, J. H. M.

In: Clinical Genetics, Vol. 93, No. 5, 01.05.2018, p. 1000-1007.

Research output: Contribution to journal › Review article › Academic › peer-review

TY - JOUR

T1 - De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

AU - van den Akker, W. M. R.

AU - Brummelman, I.

AU - Martis, L. M.

AU - Timmermans, R. N.

AU - Pfundt, R.

AU - Kleefstra, T.

AU - Willemsen, M. H.

AU - Gerkes, E. H.

AU - Herkert, J. C.

AU - van Essen, A. J.

AU - Rump, P.

AU - Vansenne, F.

AU - Terhal, P. A.

AU - van Haelst, M. M.

AU - Cristian, I.

AU - Turner, C. E.

AU - Cho, M. T.

AU - Begtrup, A.

AU - Willaert, R.

AU - Fassi, E.

AU - van Gassen, K. L. I.

AU - Stegmann, A. P. A.

AU - de Vries, B. B. A.

AU - Schuurs-Hoeijmakers, J. H. M.

PY - 2018/5/1

Y1 - 2018/5/1

KW - CDK13

KW - congenital heart defects

KW - de novo variants

KW - developmental delay

KW - facial dysmorphism

KW - intellectual disability

KW - splice-site variant

KW - whole-exome sequencing

KW - INTELLECTUAL DISABILITY

KW - MUTATIONS

KW - EXPRESSION

KW - DOMAIN

KW - GENES

U2 - 10.1111/cge.13225

DO - 10.1111/cge.13225

M3 - Review article

C2 - 29393965

VL - 93

SP - 1000

EP - 1007

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 5

ER -