Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Ideke J. C. Lamers; Margot R. F. Reijnders; Hanka Venselaar; Alison Kraus; Sandra Jansen; Bert B. A. de Vries; Gunnar Houge; Gyri Aasland Gradek; Jieun Seo; Murim Choi; Jong-Hee Chae; Ineke van der Burgt; Rolph Pfundt; Stef J. F. Letteboer; Sylvia E. C. van Beersum; Simone Dusseljee; Han G. Brunner; Dan Doherty; Tjitske Kleefstra; Ronald Roepman; DDD Study

doi:10.1016/j.ajhg.2017.09.015

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Ideke J. C. Lamers, Margot R. F. Reijnders^*, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B. A. de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J. F. Letteboer, Sylvia E. C. van Beersum, Simone Dusseljee, Han G. Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman^*DDD Study

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	824-832
Number of pages	9
Journal	American Journal of Human Genetics
Volume	101
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2017.09.015
Publication status	Published - 2 Nov 2017

Keywords

T-CELL LYMPHOMA
RECYCLING ENDOSOME
STRUCTURAL BASIS
IMAGE-ANALYSIS
PROTEIN
GTPASES
MEMBRANE
RHOA
CILIOGENESIS
SPECIFICITY

Access to Document

10.1016/j.ajhg.2017.09.015

Cite this

Lamers, I. J. C., Reijnders, M. R. F., Venselaar, H., Kraus, A., Jansen, S., de Vries, B. B. A., Houge, G., Gradek, G. A., Seo, J., Choi, M., Chae, J-H., van der Burgt, I., Pfundt, R., Letteboer, S. J. F., van Beersum, S. E. C., Dusseljee, S., Brunner, H. G., Doherty, D., Kleefstra, T., ... DDD Study (2017). Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. American Journal of Human Genetics, 101(5), 824-832. https://doi.org/10.1016/j.ajhg.2017.09.015

Lamers, Ideke J. C. ; Reijnders, Margot R. F. ; Venselaar, Hanka ; Kraus, Alison ; Jansen, Sandra ; de Vries, Bert B. A. ; Houge, Gunnar ; Gradek, Gyri Aasland ; Seo, Jieun ; Choi, Murim ; Chae, Jong-Hee ; van der Burgt, Ineke ; Pfundt, Rolph ; Letteboer, Stef J. F. ; van Beersum, Sylvia E. C. ; Dusseljee, Simone ; Brunner, Han G. ; Doherty, Dan ; Kleefstra, Tjitske ; Roepman, Ronald ; DDD Study. / Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. In: American Journal of Human Genetics. 2017 ; Vol. 101, No. 5. pp. 824-832.

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title = "Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype",

keywords = "T-CELL LYMPHOMA, RECYCLING ENDOSOME, STRUCTURAL BASIS, IMAGE-ANALYSIS, PROTEIN, GTPASES, MEMBRANE, RHOA, CILIOGENESIS, SPECIFICITY",

author = "Lamers, {Ideke J. C.} and Reijnders, {Margot R. F.} and Hanka Venselaar and Alison Kraus and Sandra Jansen and {de Vries}, {Bert B. A.} and Gunnar Houge and Gradek, {Gyri Aasland} and Jieun Seo and Murim Choi and Jong-Hee Chae and {van der Burgt}, Ineke and Rolph Pfundt and Letteboer, {Stef J. F.} and {van Beersum}, {Sylvia E. C.} and Simone Dusseljee and Brunner, {Han G.} and Dan Doherty and Tjitske Kleefstra and Ronald Roepman and {DDD Study}",

year = "2017",

month = nov,

day = "2",

doi = "10.1016/j.ajhg.2017.09.015",

language = "English",

volume = "101",

pages = "824--832",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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Lamers, IJC, Reijnders, MRF, Venselaar, H, Kraus, A, Jansen, S, de Vries, BBA, Houge, G, Gradek, GA, Seo, J, Choi, M, Chae, J-H, van der Burgt, I, Pfundt, R, Letteboer, SJF, van Beersum, SEC, Dusseljee, S, Brunner, HG, Doherty, D, Kleefstra, T, Roepman, R & DDD Study 2017, 'Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype', American Journal of Human Genetics, vol. 101, no. 5, pp. 824-832. https://doi.org/10.1016/j.ajhg.2017.09.015

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. / Lamers, Ideke J. C.; Reijnders, Margot R. F.; Venselaar, Hanka; Kraus, Alison; Jansen, Sandra; de Vries, Bert B. A.; Houge, Gunnar; Gradek, Gyri Aasland; Seo, Jieun; Choi, Murim; Chae, Jong-Hee; van der Burgt, Ineke; Pfundt, Rolph; Letteboer, Stef J. F.; van Beersum, Sylvia E. C.; Dusseljee, Simone; Brunner, Han G.; Doherty, Dan; Kleefstra, Tjitske; Roepman, Ronald; DDD Study.

In: American Journal of Human Genetics, Vol. 101, No. 5, 02.11.2017, p. 824-832.

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

TY - JOUR

T1 - Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

AU - Lamers, Ideke J. C.

AU - Reijnders, Margot R. F.

AU - Venselaar, Hanka

AU - Kraus, Alison

AU - Jansen, Sandra

AU - de Vries, Bert B. A.

AU - Houge, Gunnar

AU - Gradek, Gyri Aasland

AU - Seo, Jieun

AU - Choi, Murim

AU - Chae, Jong-Hee

AU - van der Burgt, Ineke

AU - Pfundt, Rolph

AU - Letteboer, Stef J. F.

AU - van Beersum, Sylvia E. C.

AU - Dusseljee, Simone

AU - Brunner, Han G.

AU - Doherty, Dan

AU - Kleefstra, Tjitske

AU - Roepman, Ronald

AU - DDD Study

PY - 2017/11/2

Y1 - 2017/11/2

KW - T-CELL LYMPHOMA

KW - RECYCLING ENDOSOME

KW - STRUCTURAL BASIS

KW - IMAGE-ANALYSIS

KW - PROTEIN

KW - GTPASES

KW - MEMBRANE

KW - RHOA

KW - CILIOGENESIS

KW - SPECIFICITY

U2 - 10.1016/j.ajhg.2017.09.015

DO - 10.1016/j.ajhg.2017.09.015

M3 - Article

C2 - 29106825

VL - 101

SP - 824

EP - 832

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -