Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

G. Beunders; E. Voorhoeve; C. Golzio; L.M. Pardo; J.A. Rosenfeld; M.E. Talkowski; I. Simonic; A.C. Lionel; S. Vergult; R.E. Pyatt; J.M. van de Kamp; A.W.M. Nieuwint; M.M. Weiss; P. Rizzu; L.E.N.I. Verwer; R.M.L. van Spaendonk; Y.P. Shen; B.L. Wu; T.T. Yu; Y.G. Yu; C. Chiang; J.F. Gusella; A.M. Lindgren; C.C. Morton; E. van Binsbergen; S. Bulk; E. van Rossem; O. Vanakker; R. Armstrong; S.M. Park; L. Greenhalgh; U. Maye; N.J. Neill; K.M. Abbott; S. Sell; R. Ladda; D.M. Farber; P.I. Bader; T. Cushing; J.M. Drautz; L. Konczal; P. Nash; E. de Los Reyes; M.T. Carter; E. Hopkins; C.R. Marshall; L.R. Osborne; K.W. Gripp; D.L. Thrush; S Hashimoto; J.M. Gastier-Foster; C. Astbury; B. Ylstra; E.J. Meijers-Heijboer; D. Posthuma; B Menten; G. Mortier; S.W. Scherer; E.E. Eichler; S. Girirajan; N. Katsanis; A.J.A. Groffen; E.A. Sistermans

doi:10.1016/j.ajhg.2012.12.011

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

G. Beunders, E. Voorhoeve, C. Golzio, L.M. Pardo, J.A. Rosenfeld, M.E. Talkowski, I. Simonic, A.C. Lionel, S. Vergult, R.E. Pyatt, J.M. van de Kamp, A.W.M. Nieuwint, M.M. Weiss, P. Rizzu, L.E.N.I. Verwer, R.M.L. van Spaendonk, Y.P. Shen, B.L. Wu, T.T. Yu, Y.G. YuC. Chiang, J.F. Gusella, A.M. Lindgren, C.C. Morton, E. van Binsbergen, S. Bulk, E. van Rossem, O. Vanakker, R. Armstrong, S.M. Park, L. Greenhalgh, U. Maye, N.J. Neill, K.M. Abbott, S. Sell, R. Ladda, D.M. Farber, P.I. Bader, T. Cushing, J.M. Drautz, L. Konczal, P. Nash, E. de Los Reyes, M.T. Carter, E. Hopkins, C.R. Marshall, L.R. Osborne, K.W. Gripp, D.L. Thrush, S Hashimoto, J.M. Gastier-Foster, C. Astbury, B. Ylstra, E.J. Meijers-Heijboer, D. Posthuma, B Menten, G. Mortier, S.W. Scherer, E.E. Eichler, S. Girirajan, N. Katsanis, A.J.A. Groffen, E.A. Sistermans

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

Original language	English
Pages (from-to)	210-220
Journal	American journal of human genetics
Volume	92
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2012.12.011
Publication status	Published - 2013

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10.1016/j.ajhg.2012.12.011

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567268/

Cite this

Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., van de Kamp, J. M., Nieuwint, A. W. M., Weiss, M. M., Rizzu, P., Verwer, L. E. N. I., van Spaendonk, R. M. L., Shen, Y. P., Wu, B. L., Yu, T. T., ... Sistermans, E. A. (2013). Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus. American journal of human genetics, 92(2), 210-220. https://doi.org/10.1016/j.ajhg.2012.12.011

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title = "Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus",

author = "G. Beunders and E. Voorhoeve and C. Golzio and L.M. Pardo and J.A. Rosenfeld and M.E. Talkowski and I. Simonic and A.C. Lionel and S. Vergult and R.E. Pyatt and {van de Kamp}, J.M. and A.W.M. Nieuwint and M.M. Weiss and P. Rizzu and L.E.N.I. Verwer and {van Spaendonk}, R.M.L. and Y.P. Shen and B.L. Wu and T.T. Yu and Y.G. Yu and C. Chiang and J.F. Gusella and A.M. Lindgren and C.C. Morton and {van Binsbergen}, E. and S. Bulk and {van Rossem}, E. and O. Vanakker and R. Armstrong and S.M. Park and L. Greenhalgh and U. Maye and N.J. Neill and K.M. Abbott and S. Sell and R. Ladda and D.M. Farber and P.I. Bader and T. Cushing and J.M. Drautz and L. Konczal and P. Nash and {de Los Reyes}, E. and M.T. Carter and E. Hopkins and C.R. Marshall and L.R. Osborne and K.W. Gripp and D.L. Thrush and S Hashimoto and J.M. Gastier-Foster and C. Astbury and B. Ylstra and E.J. Meijers-Heijboer and D. Posthuma and B Menten and G. Mortier and S.W. Scherer and E.E. Eichler and S. Girirajan and N. Katsanis and A.J.A. Groffen and E.A. Sistermans",

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Beunders, G, Voorhoeve, E, Golzio, C, Pardo, LM, Rosenfeld, JA, Talkowski, ME, Simonic, I, Lionel, AC, Vergult, S, Pyatt, RE, van de Kamp, JM, Nieuwint, AWM, Weiss, MM, Rizzu, P, Verwer, LENI, van Spaendonk, RML, Shen, YP, Wu, BL, Yu, TT, Yu, YG, Chiang, C, Gusella, JF, Lindgren, AM, Morton, CC, van Binsbergen, E, Bulk, S, van Rossem, E, Vanakker, O, Armstrong, R, Park, SM, Greenhalgh, L, Maye, U, Neill, NJ, Abbott, KM, Sell, S, Ladda, R, Farber, DM, Bader, PI, Cushing, T, Drautz, JM, Konczal, L, Nash, P, de Los Reyes, E, Carter, MT, Hopkins, E, Marshall, CR, Osborne, LR, Gripp, KW, Thrush, DL, Hashimoto, S, Gastier-Foster, JM, Astbury, C, Ylstra, B , Meijers-Heijboer, EJ , Posthuma, D, Menten, B, Mortier, G, Scherer, SW, Eichler, EE, Girirajan, S, Katsanis, N, Groffen, AJA & Sistermans, EA 2013, 'Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus', American journal of human genetics, vol. 92, no. 2, pp. 210-220. https://doi.org/10.1016/j.ajhg.2012.12.011

TY - JOUR

T1 - Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

AU - Beunders, G.

AU - Voorhoeve, E.

AU - Golzio, C.

AU - Pardo, L.M.

AU - Rosenfeld, J.A.

AU - Talkowski, M.E.

AU - Simonic, I.

AU - Lionel, A.C.

AU - Vergult, S.

AU - Pyatt, R.E.

AU - van de Kamp, J.M.

AU - Nieuwint, A.W.M.

AU - Weiss, M.M.

AU - Rizzu, P.

AU - Verwer, L.E.N.I.

AU - van Spaendonk, R.M.L.

AU - Shen, Y.P.

AU - Wu, B.L.

AU - Yu, T.T.

AU - Yu, Y.G.

AU - Chiang, C.

AU - Gusella, J.F.

AU - Lindgren, A.M.

AU - Morton, C.C.

AU - van Binsbergen, E.

AU - Bulk, S.

AU - van Rossem, E.

AU - Vanakker, O.

AU - Armstrong, R.

AU - Park, S.M.

AU - Greenhalgh, L.

AU - Maye, U.

AU - Neill, N.J.

AU - Abbott, K.M.

AU - Sell, S.

AU - Ladda, R.

AU - Farber, D.M.

AU - Bader, P.I.

AU - Cushing, T.

AU - Drautz, J.M.

AU - Konczal, L.

AU - Nash, P.

AU - de Los Reyes, E.

AU - Carter, M.T.

AU - Hopkins, E.

AU - Marshall, C.R.

AU - Osborne, L.R.

AU - Gripp, K.W.

AU - Thrush, D.L.

AU - Hashimoto, S

AU - Gastier-Foster, J.M.

AU - Astbury, C.

AU - Ylstra, B.

AU - Meijers-Heijboer, E.J.

AU - Posthuma, D.

AU - Menten, B

AU - Mortier, G.

AU - Scherer, S.W.

AU - Eichler, E.E.

AU - Girirajan, S.

AU - Katsanis, N.

AU - Groffen, A.J.A.

AU - Sistermans, E.A.

PY - 2013

Y1 - 2013

U2 - 10.1016/j.ajhg.2012.12.011

DO - 10.1016/j.ajhg.2012.12.011

M3 - Article

C2 - 23332918

VL - 92

SP - 210

EP - 220

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 2

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