Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

M.E. Talkowski; S.V. Mullegama; J.A. Rosenfeld; B.W. van Bon; Y. Shen; E.A. Repnikova; J. Gastier-Foster; D.L. Thrush; S. Kathiresan; D.M. Ruderfer; C. Chiang; C. Hanscom; C. Ernst; A.M. Lindgren; Y. An; C. Astbury; L.A. Brueton; K.D. Lichtenbelt; L.C. Ades; M. Fichera; C. Romano; C.A. Williams; D. Bartholomew; M.I. van Allen; A. Parikh; L. Zhang; B.L. Wu; R.E. Pyatt; L.G. Schwartz; B.B. de Vries; J.F. Gusella; S.H. Elsea

doi:10.1016/j.ajhg.2011.09.011.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Translated title of the contribution: Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

M.E. Talkowski, S.V. Mullegama, J.A. Rosenfeld, B.W. van Bon, Y. Shen, E.A. Repnikova, J. Gastier-Foster, D.L. Thrush, S. Kathiresan, D.M. Ruderfer, C. Chiang, C. Hanscom, C. Ernst, A.M. Lindgren, Y. An, C. Astbury, L.A. Brueton, K.D. Lichtenbelt, L.C. Ades, M. FicheraC. Romano, C.A. Williams, D. Bartholomew, M.I. van Allen, A. Parikh, L. Zhang, B.L. Wu, R.E. Pyatt, L.G. Schwartz, B.B. de Vries, J.F. Gusella, S.H. Elsea

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

Translated title of the contribution	Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
Original language	Undefined/Unknown
Pages (from-to)	551-563
Number of pages	13
Journal	American Journal of Human Genetics
Volume	89
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2011.09.011.
Publication status	Published - 2011

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10.1016/j.ajhg.2011.09.011.

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Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., Ernst, C., Lindgren, A. M., An, Y., Astbury, C., Brueton, L. A., Lichtenbelt, K. D., Ades, L. C., ... Elsea, S. H. (2011). Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics, 89(4), 551-563. https://doi.org/10.1016/j.ajhg.2011.09.011.

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title = "Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder",

author = "M.E. Talkowski and S.V. Mullegama and J.A. Rosenfeld and {van Bon}, B.W. and Y. Shen and E.A. Repnikova and J. Gastier-Foster and D.L. Thrush and S. Kathiresan and D.M. Ruderfer and C. Chiang and C. Hanscom and C. Ernst and A.M. Lindgren and Y. An and C. Astbury and L.A. Brueton and K.D. Lichtenbelt and L.C. Ades and M. Fichera and C. Romano and C.A. Williams and D. Bartholomew and {van Allen}, M.I. and A. Parikh and L. Zhang and B.L. Wu and R.E. Pyatt and L.G. Schwartz and {de Vries}, B.B. and J.F. Gusella and S.H. Elsea",

year = "2011",

doi = "10.1016/j.ajhg.2011.09.011.",

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volume = "89",

pages = "551--563",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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Talkowski, ME, Mullegama, SV, Rosenfeld, JA, van Bon, BW, Shen, Y, Repnikova, EA, Gastier-Foster, J, Thrush, DL, Kathiresan, S, Ruderfer, DM, Chiang, C, Hanscom, C, Ernst, C, Lindgren, AM, An, Y, Astbury, C, Brueton, LA, Lichtenbelt, KD, Ades, LC, Fichera, M, Romano, C, Williams, CA, Bartholomew, D, van Allen, MI, Parikh, A, Zhang, L, Wu, BL, Pyatt, RE, Schwartz, LG, de Vries, BB, Gusella, JF & Elsea, SH 2011, 'Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder', American Journal of Human Genetics, vol. 89, no. 4, pp. 551-563. https://doi.org/10.1016/j.ajhg.2011.09.011.

TY - JOUR

T1 - Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

AU - Talkowski, M.E.

AU - Mullegama, S.V.

AU - Rosenfeld, J.A.

AU - van Bon, B.W.

AU - Shen, Y.

AU - Repnikova, E.A.

AU - Gastier-Foster, J.

AU - Thrush, D.L.

AU - Kathiresan, S.

AU - Ruderfer, D.M.

AU - Chiang, C.

AU - Hanscom, C.

AU - Ernst, C.

AU - Lindgren, A.M.

AU - An, Y.

AU - Astbury, C.

AU - Brueton, L.A.

AU - Lichtenbelt, K.D.

AU - Ades, L.C.

AU - Fichera, M.

AU - Romano, C.

AU - Williams, C.A.

AU - Bartholomew, D.

AU - van Allen, M.I.

AU - Parikh, A.

AU - Zhang, L.

AU - Wu, B.L.

AU - Pyatt, R.E.

AU - Schwartz, L.G.

AU - de Vries, B.B.

AU - Gusella, J.F.

AU - Elsea, S.H.

PY - 2011

Y1 - 2011

U2 - 10.1016/j.ajhg.2011.09.011.

DO - 10.1016/j.ajhg.2011.09.011.

M3 - Article

SN - 0002-9297

VL - 89

SP - 551

EP - 563

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -