De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung-Hyun Kim; Deepali N. Shinde; Margot R. F. Reijnders; Natalie S. Hauser; Rebecca L. Belmonte; Gregory R. Wilson; Danielle G. M. Bosch; Paula A. Bubulya; Vandana Shashi; Slave Petrovski; Joshua K. Stone; Eun Young Park; Joris Veltman; Margje Sinnema; Constance Stumpel; Jos M. Draaisma; Joost Nicolai; Helger G. Yntema; Kristin Lindstrom; Bert B. A. de Vries; Tamison Jewett; Stephanie L. Santoro; Julie Vogt; Kristine K. Bachman; Andrea H. Seeley; Alyson Krokosky; Clesson Turner; Luis Rohena; Maja Hempel; Fanny Kortuem; Davor Lessel; Axel Neu; Tim M. Strom; Dagmar Wieczorek; Nuria Bramswig; Franco A. Laccone; Jana Behunova; Helga Rehder; Christopher T. Gordon; Marlene Rio; Serge Romana; Sha Tang; Dima El-Khechen; Megan T. Cho; Kirsty McWalter; Ganka Douglas; Berivan Baskin; Amber Begtrup; Tara Funari; Kelly Schoch; Alexander P. A. Stegmann; Servi J. C. Stevens; Dong-Er Zhang; David Traver; Xu Yao; Daniel G. MacArthur; Han G. Brunner; Grazia M. Mancini; Richard M. Myers; Laurie B. Owen; Ssang-Taek Lim; David L. Stachura; Lisenka E. L. M. Vissers; Eun-Young Erin Ahn

doi:10.1016/j.ajhg.2016.06.029

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung-Hyun Kim, Deepali N. Shinde, Margot R. F. Reijnders, Natalie S. Hauser, Rebecca L. Belmonte, Gregory R. Wilson, Danielle G. M. Bosch, Paula A. Bubulya, Vandana Shashi, Slave Petrovski, Joshua K. Stone, Eun Young Park, Joris Veltman, Margje Sinnema, Constance Stumpel, Jos M. Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B. A. de VriesTamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine K. Bachman, Andrea H. Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortuem, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria Bramswig, Franco A. Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlene Rio, Serge Romana, Sha Tang, Dima El-Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P. A. Stegmann, Servi J. C. Stevens, Dong-Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M. Mancini, Richard M. Myers, Laurie B. Owen, Ssang-Taek Lim, David L. Stachura, Lisenka E. L. M. Vissers, Eun-Young Erin Ahn

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

Original language	English
Pages (from-to)	711-719
Journal	American Journal of Human Genetics
Volume	99
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2016.06.029
Publication status	Published - 1 Sep 2016

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Kim, J-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D. G. M., Bubulya, P. A., Shashi, V., Petrovski, S., Stone, J. K., Park, E. Y., Veltman, J., Sinnema, M., Stumpel, C., Draaisma, J. M., Nicolai, J., Yntema, H. G., Lindstrom, K., ... Ahn, E-Y. E. (2016). De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. American Journal of Human Genetics, 99(3), 711-719. https://doi.org/10.1016/j.ajhg.2016.06.029

Kim, Jung-Hyun ; Shinde, Deepali N. ; Reijnders, Margot R. F. ; Hauser, Natalie S. ; Belmonte, Rebecca L. ; Wilson, Gregory R. ; Bosch, Danielle G. M. ; Bubulya, Paula A. ; Shashi, Vandana ; Petrovski, Slave ; Stone, Joshua K. ; Park, Eun Young ; Veltman, Joris ; Sinnema, Margje ; Stumpel, Constance ; Draaisma, Jos M. ; Nicolai, Joost ; Yntema, Helger G. ; Lindstrom, Kristin ; de Vries, Bert B. A. ; Jewett, Tamison ; Santoro, Stephanie L. ; Vogt, Julie ; Bachman, Kristine K. ; Seeley, Andrea H. ; Krokosky, Alyson ; Turner, Clesson ; Rohena, Luis ; Hempel, Maja ; Kortuem, Fanny ; Lessel, Davor ; Neu, Axel ; Strom, Tim M. ; Wieczorek, Dagmar ; Bramswig, Nuria ; Laccone, Franco A. ; Behunova, Jana ; Rehder, Helga ; Gordon, Christopher T. ; Rio, Marlene ; Romana, Serge ; Tang, Sha ; El-Khechen, Dima ; Cho, Megan T. ; McWalter, Kirsty ; Douglas, Ganka ; Baskin, Berivan ; Begtrup, Amber ; Funari, Tara ; Schoch, Kelly ; Stegmann, Alexander P. A. ; Stevens, Servi J. C. ; Zhang, Dong-Er ; Traver, David ; Yao, Xu ; MacArthur, Daniel G. ; Brunner, Han G. ; Mancini, Grazia M. ; Myers, Richard M. ; Owen, Laurie B. ; Lim, Ssang-Taek ; Stachura, David L. ; Vissers, Lisenka E. L. M. ; Ahn, Eun-Young Erin. / De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. In: American Journal of Human Genetics. 2016 ; Vol. 99, No. 3. pp. 711-719.

@article{a1e3c1f27fef49c5a408a9a12b8b486a,

title = "De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome",

author = "Jung-Hyun Kim and Shinde, {Deepali N.} and Reijnders, {Margot R. F.} and Hauser, {Natalie S.} and Belmonte, {Rebecca L.} and Wilson, {Gregory R.} and Bosch, {Danielle G. M.} and Bubulya, {Paula A.} and Vandana Shashi and Slave Petrovski and Stone, {Joshua K.} and Park, {Eun Young} and Joris Veltman and Margje Sinnema and Constance Stumpel and Draaisma, {Jos M.} and Joost Nicolai and Yntema, {Helger G.} and Kristin Lindstrom and {de Vries}, {Bert B. A.} and Tamison Jewett and Santoro, {Stephanie L.} and Julie Vogt and Bachman, {Kristine K.} and Seeley, {Andrea H.} and Alyson Krokosky and Clesson Turner and Luis Rohena and Maja Hempel and Fanny Kortuem and Davor Lessel and Axel Neu and Strom, {Tim M.} and Dagmar Wieczorek and Nuria Bramswig and Laccone, {Franco A.} and Jana Behunova and Helga Rehder and Gordon, {Christopher T.} and Marlene Rio and Serge Romana and Sha Tang and Dima El-Khechen and Cho, {Megan T.} and Kirsty McWalter and Ganka Douglas and Berivan Baskin and Amber Begtrup and Tara Funari and Kelly Schoch and Stegmann, {Alexander P. A.} and Stevens, {Servi J. C.} and Dong-Er Zhang and David Traver and Xu Yao and MacArthur, {Daniel G.} and Brunner, {Han G.} and Mancini, {Grazia M.} and Myers, {Richard M.} and Owen, {Laurie B.} and Ssang-Taek Lim and Stachura, {David L.} and Vissers, {Lisenka E. L. M.} and Ahn, {Eun-Young Erin}",

year = "2016",

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doi = "10.1016/j.ajhg.2016.06.029",

language = "English",

volume = "99",

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journal = "American Journal of Human Genetics",

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Kim, J-H, Shinde, DN, Reijnders, MRF, Hauser, NS, Belmonte, RL, Wilson, GR, Bosch, DGM, Bubulya, PA, Shashi, V, Petrovski, S, Stone, JK, Park, EY, Veltman, J, Sinnema, M , Stumpel, C, Draaisma, JM, Nicolai, J, Yntema, HG, Lindstrom, K, de Vries, BBA, Jewett, T, Santoro, SL, Vogt, J, Bachman, KK, Seeley, AH, Krokosky, A, Turner, C, Rohena, L, Hempel, M, Kortuem, F, Lessel, D, Neu, A, Strom, TM, Wieczorek, D, Bramswig, N, Laccone, FA, Behunova, J, Rehder, H, Gordon, CT, Rio, M, Romana, S, Tang, S, El-Khechen, D, Cho, MT, McWalter, K, Douglas, G, Baskin, B, Begtrup, A, Funari, T, Schoch, K, Stegmann, APA , Stevens, SJC, Zhang, D-E, Traver, D, Yao, X, MacArthur, DG, Brunner, HG, Mancini, GM, Myers, RM, Owen, LB, Lim, S-T, Stachura, DL, Vissers, LELM & Ahn, E-YE 2016, 'De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome', American Journal of Human Genetics, vol. 99, no. 3, pp. 711-719. https://doi.org/10.1016/j.ajhg.2016.06.029

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. / Kim, Jung-Hyun; Shinde, Deepali N.; Reijnders, Margot R. F.; Hauser, Natalie S.; Belmonte, Rebecca L.; Wilson, Gregory R.; Bosch, Danielle G. M.; Bubulya, Paula A.; Shashi, Vandana; Petrovski, Slave; Stone, Joshua K.; Park, Eun Young; Veltman, Joris; Sinnema, Margje ; Stumpel, Constance; Draaisma, Jos M.; Nicolai, Joost; Yntema, Helger G.; Lindstrom, Kristin; de Vries, Bert B. A.; Jewett, Tamison; Santoro, Stephanie L.; Vogt, Julie; Bachman, Kristine K.; Seeley, Andrea H.; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortuem, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M.; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A.; Behunova, Jana; Rehder, Helga; Gordon, Christopher T.; Rio, Marlene; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T.; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander P. A.; Stevens, Servi J. C.; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G.; Brunner, Han G.; Mancini, Grazia M.; Myers, Richard M.; Owen, Laurie B.; Lim, Ssang-Taek; Stachura, David L.; Vissers, Lisenka E. L. M.; Ahn, Eun-Young Erin.

In: American Journal of Human Genetics, Vol. 99, No. 3, 01.09.2016, p. 711-719.

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

TY - JOUR

T1 - De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

AU - Kim, Jung-Hyun

AU - Shinde, Deepali N.

AU - Reijnders, Margot R. F.

AU - Hauser, Natalie S.

AU - Belmonte, Rebecca L.

AU - Wilson, Gregory R.

AU - Bosch, Danielle G. M.

AU - Bubulya, Paula A.

AU - Shashi, Vandana

AU - Petrovski, Slave

AU - Stone, Joshua K.

AU - Park, Eun Young

AU - Veltman, Joris

AU - Sinnema, Margje

AU - Stumpel, Constance

AU - Draaisma, Jos M.

AU - Nicolai, Joost

AU - Yntema, Helger G.

AU - Lindstrom, Kristin

AU - de Vries, Bert B. A.

AU - Jewett, Tamison

AU - Santoro, Stephanie L.

AU - Vogt, Julie

AU - Bachman, Kristine K.

AU - Seeley, Andrea H.

AU - Krokosky, Alyson

AU - Turner, Clesson

AU - Rohena, Luis

AU - Hempel, Maja

AU - Kortuem, Fanny

AU - Lessel, Davor

AU - Neu, Axel

AU - Strom, Tim M.

AU - Wieczorek, Dagmar

AU - Bramswig, Nuria

AU - Laccone, Franco A.

AU - Behunova, Jana

AU - Rehder, Helga

AU - Gordon, Christopher T.

AU - Rio, Marlene

AU - Romana, Serge

AU - Tang, Sha

AU - El-Khechen, Dima

AU - Cho, Megan T.

AU - McWalter, Kirsty

AU - Douglas, Ganka

AU - Baskin, Berivan

AU - Begtrup, Amber

AU - Funari, Tara

AU - Schoch, Kelly

AU - Stegmann, Alexander P. A.

AU - Stevens, Servi J. C.

AU - Zhang, Dong-Er

AU - Traver, David

AU - Yao, Xu

AU - MacArthur, Daniel G.

AU - Brunner, Han G.

AU - Mancini, Grazia M.

AU - Myers, Richard M.

AU - Owen, Laurie B.

AU - Lim, Ssang-Taek

AU - Stachura, David L.

AU - Vissers, Lisenka E. L. M.

AU - Ahn, Eun-Young Erin

PY - 2016/9/1

Y1 - 2016/9/1

U2 - 10.1016/j.ajhg.2016.06.029

DO - 10.1016/j.ajhg.2016.06.029

M3 - Article

VL - 99

SP - 711

EP - 719

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 3

ER -