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

Research output: Contribution to journalLetter

5 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)221-223
Number of pages3
JournalClinical Genetics
Volume92
Issue number2
DOIs
StatePublished - Aug 2017

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Stern, D., Cho, M. T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., ... 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
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. ; Baskin, B. ; Guillen Sacoto, M. J. ; Wentzensen, I. M. ; McLaughlin, H. M. ; McKnight, D. ; Chung, W. K. / Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. In: Clinical Genetics. 2017 ; Vol. 92, No. 2. pp. 221-223.
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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.}",
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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

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. / 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.; Baskin, B.; Guillen Sacoto, M. J.; Wentzensen, I. M.; McLaughlin, H. M.; McKnight, D.; Chung, W. K.

In: Clinical Genetics, Vol. 92, No. 2, 08.2017, p. 221-223.

Research output: Contribution to journalLetter

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.

PY - 2017/8

Y1 - 2017/8

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U2 - 10.1111/cge.12956

DO - 10.1111/cge.12956

M3 - Letter

C2 - 28111752

AN - SCOPUS:85010210690

VL - 92

SP - 221

EP - 223

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 2

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