Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

J.H. Schuurs-Hoeijmakers; E.C. Oh; L.E.L.M. Vissers; M.E.M. Swinkels; C. Gilissen; M.A. Willemsen; M. Holvoet; M. Steehouwer; J.A. Veltman; B.B.A. de Vries; H. van Bokhoven; A.P.M. de Brouwer; N. Katsanis; K. Devriendt; H.G. Brunner

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

Translated title of the contribution: Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

J.H. Schuurs-Hoeijmakers
, E.C. Oh
, L.E.L.M. Vissers
, M.E.M. Swinkels
, C. Gilissen
, M.A. Willemsen
, M. Holvoet
, M. Steehouwer
, J.A. Veltman
, B.B.A. de Vries
, H. van Bokhoven
, A.P.M. de Brouwer
, N. Katsanis
, K. Devriendt
, H.G. Brunner

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

Translated title of the contribution	Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
Original language	Undefined/Unknown
Pages (from-to)	1122-1127
Number of pages	6
Journal	American Journal of Human Genetics
Volume	91
Issue number	6
Publication status	Published - 2012

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed?term=23159249

Cite this

Schuurs-Hoeijmakers, J. H., Oh, E. C., Vissers, L. E. L. M., Swinkels, M. E. M., Gilissen, C., Willemsen, M. A., Holvoet, M., Steehouwer, M., Veltman, J. A., de Vries, B. B. A., van Bokhoven, H., de Brouwer, A. P. M., Katsanis, N., Devriendt, K., & Brunner, H. G. (2012). Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome. American Journal of Human Genetics, 91(6), 1122-1127. http://www.ncbi.nlm.nih.gov/pubmed?term=23159249

@article{160feccb40254286a7aa4e0e50a74b28,

title = "Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome",

author = "J.H. Schuurs-Hoeijmakers and E.C. Oh and L.E.L.M. Vissers and M.E.M. Swinkels and C. Gilissen and M.A. Willemsen and M. Holvoet and M. Steehouwer and J.A. Veltman and \{de Vries\}, B.B.A. and \{van Bokhoven\}, H. and \{de Brouwer\}, A.P.M. and N. Katsanis and K. Devriendt and H.G. Brunner",

year = "2012",

language = "Undefined/Unknown",

volume = "91",

pages = "1122--1127",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "6",

}

Schuurs-Hoeijmakers, JH, Oh, EC, Vissers, LELM, Swinkels, MEM, Gilissen, C, Willemsen, MA, Holvoet, M, Steehouwer, M, Veltman, JA, de Vries, BBA, van Bokhoven, H, de Brouwer, APM, Katsanis, N, Devriendt, K & Brunner, HG 2012, 'Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome', American Journal of Human Genetics, vol. 91, no. 6, pp. 1122-1127. <http://www.ncbi.nlm.nih.gov/pubmed?term=23159249>

TY - JOUR

T1 - Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

AU - Schuurs-Hoeijmakers, J.H.

AU - Oh, E.C.

AU - Vissers, L.E.L.M.

AU - Swinkels, M.E.M.

AU - Gilissen, C.

AU - Willemsen, M.A.

AU - Holvoet, M.

AU - Steehouwer, M.

AU - Veltman, J.A.

AU - de Vries, B.B.A.

AU - van Bokhoven, H.

AU - de Brouwer, A.P.M.

AU - Katsanis, N.

AU - Devriendt, K.

AU - Brunner, H.G.

PY - 2012

Y1 - 2012

M3 - Article

SN - 0002-9297

VL - 91

SP - 1122

EP - 1127

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -