Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

D. Stern; M. T. Cho; R. Chikarmane; R. Willaert; K. Retterer; F. Kendall; M. Deardorff; S. Hopkins; E. Bedoukian; A. Slavotinek; S. Schrier Vergano; B. Spangler; M. McDonald; A. McConkie-Rosell; B. K. Burton; K. H. Kim; N. Oundjian; D. Kronn; N. Chandy; B. Baskin; M. J. Guillen Sacoto; I. M. Wentzensen; H. M. McLaughlin; D. McKnight; W. K. Chung

doi:10.1111/cge.12956

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

D. Stern, M. T. Cho, R. Chikarmane, R. Willaert, K. Retterer, F. Kendall, M. Deardorff, S. Hopkins, E. Bedoukian, A. Slavotinek, S. Schrier Vergano, B. Spangler, M. McDonald, A. McConkie-Rosell, B. K. Burton, K. H. Kim, N. Oundjian, D. Kronn, N. Chandy, B. BaskinM. J. Guillen Sacoto, I. M. Wentzensen, H. M. McLaughlin, D. McKnight, W. K. Chung^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Letter › peer-review

22 Scopus citations

Original language	English (US)
Pages (from-to)	221-223
Number of pages	3
Journal	Clinical genetics
Volume	92
Issue number	2
DOIs	https://doi.org/10.1111/cge.12956
State	Published - Aug 2017

Funding

We thank the patients and their families for their generous participation, Jessica Hoffman and Tara Funari for compiling clinical information, and support from NIH 2T35HL007616-36 and the Simons Foundation.

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/cge.12956

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Stern, D., Cho, M. T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie-Rosell, A., Burton, B. K., Kim, K. H., Oundjian, N., Kronn, D., Chandy, N., ... Chung, W. K. (2017). Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clinical genetics, 92(2), 221-223. https://doi.org/10.1111/cge.12956

@article{bc594525745445898a05129d07c1859e,

title = "Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures",

author = "D. Stern and Cho, {M. T.} and R. Chikarmane and R. Willaert and K. Retterer and F. Kendall and M. Deardorff and S. Hopkins and E. Bedoukian and A. Slavotinek and {Schrier Vergano}, S. and B. Spangler and M. McDonald and A. McConkie-Rosell and Burton, {B. K.} and Kim, {K. H.} and N. Oundjian and D. Kronn and N. Chandy and B. Baskin and {Guillen Sacoto}, {M. J.} and Wentzensen, {I. M.} and McLaughlin, {H. M.} and D. McKnight and Chung, {W. K.}",

note = "Funding Information: We thank the patients and their families for their generous participation, Jessica Hoffman and Tara Funari for compiling clinical information, and support from NIH 2T35HL007616-36 and the Simons Foundation.",

year = "2017",

month = aug,

doi = "10.1111/cge.12956",

language = "English (US)",

volume = "92",

pages = "221--223",

journal = "Clinical genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "2",

}

Stern, D, Cho, MT, Chikarmane, R, Willaert, R, Retterer, K, Kendall, F, Deardorff, M, Hopkins, S, Bedoukian, E, Slavotinek, A, Schrier Vergano, S, Spangler, B, McDonald, M, McConkie-Rosell, A, Burton, BK , Kim, KH, Oundjian, N, Kronn, D, Chandy, N, Baskin, B, Guillen Sacoto, MJ, Wentzensen, IM, McLaughlin, HM, McKnight, D & Chung, WK 2017, 'Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures', Clinical genetics, vol. 92, no. 2, pp. 221-223. https://doi.org/10.1111/cge.12956

TY - JOUR

T1 - Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

AU - Stern, D.

AU - Cho, M. T.

AU - Chikarmane, R.

AU - Willaert, R.

AU - Retterer, K.

AU - Kendall, F.

AU - Deardorff, M.

AU - Hopkins, S.

AU - Bedoukian, E.

AU - Slavotinek, A.

AU - Schrier Vergano, S.

AU - Spangler, B.

AU - McDonald, M.

AU - McConkie-Rosell, A.

AU - Burton, B. K.

AU - Kim, K. H.

AU - Oundjian, N.

AU - Kronn, D.

AU - Chandy, N.

AU - Baskin, B.

AU - Guillen Sacoto, M. J.

AU - Wentzensen, I. M.

AU - McLaughlin, H. M.

AU - McKnight, D.

AU - Chung, W. K.

N1 - Funding Information: We thank the patients and their families for their generous participation, Jessica Hoffman and Tara Funari for compiling clinical information, and support from NIH 2T35HL007616-36 and the Simons Foundation.

PY - 2017/8

Y1 - 2017/8

UR - http://www.scopus.com/inward/record.url?scp=85010210690&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85010210690&partnerID=8YFLogxK

U2 - 10.1111/cge.12956

DO - 10.1111/cge.12956

M3 - Letter

C2 - 28111752

AN - SCOPUS:85010210690

SN - 0009-9163

VL - 92

SP - 221

EP - 223

JO - Clinical genetics

JF - Clinical genetics

IS - 2

ER -

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Funding

ASJC Scopus subject areas

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