De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi; Loren D. M. Pena; Katherine Kim; Barbara Burton; Maja Hempel; Kelly Schoch; Magdalena Walkiewicz; Heather M. McLaughlin; Megan Cho; Nicholas Stong; Scott E. Hickey; Christine M. Shuss; Michael S. Freemark; Jane S. Bellet; Martha Ann Keels; Melanie J. Bonner; Maysantoine El-Dairi; Megan Butler; Peter G. Kranz; Constance T. R. M. Stumpel; Sylvia Klinkenberg; Karin Oberndorff; Malik Alawi; Rene Santer; Slave Petrovski; Outi Kuismin; Satu Korpi-Heikkila; Olli Pietilainen; Palotie Aarno; Mitja I. Kurki; Alexander Hoischen; Anna C. Need; David B. Goldstein; Fanny Kortuem

doi:10.1016/j.ajhg.2016.08.017

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi^*, Loren D. M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine M. Shuss, Michael S. Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine El-Dairi, Megan Butler, Peter G. Kranz, Constance T. R. M. StumpelSylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slave Petrovski, Outi Kuismin, Satu Korpi-Heikkila, Olli Pietilainen, Palotie Aarno, Mitja I. Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortuem

^*Corresponding author for this work

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

40 Citations (Web of Science)

Original language	English
Pages (from-to)	991-999
Journal	American Journal of Human Genetics
Volume	99
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2016.08.017
Publication status	Published - 6 Oct 2016

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10.1016/j.ajhg.2016.08.017

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Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., ... Kortuem, F. (2016). De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. American Journal of Human Genetics, 99(4), 991-999. https://doi.org/10.1016/j.ajhg.2016.08.017

Shashi, Vandana ; Pena, Loren D. M. ; Kim, Katherine ; Burton, Barbara ; Hempel, Maja ; Schoch, Kelly ; Walkiewicz, Magdalena ; McLaughlin, Heather M. ; Cho, Megan ; Stong, Nicholas ; Hickey, Scott E. ; Shuss, Christine M. ; Freemark, Michael S. ; Bellet, Jane S. ; Keels, Martha Ann ; Bonner, Melanie J. ; El-Dairi, Maysantoine ; Butler, Megan ; Kranz, Peter G. ; Stumpel, Constance T. R. M. ; Klinkenberg, Sylvia ; Oberndorff, Karin ; Alawi, Malik ; Santer, Rene ; Petrovski, Slave ; Kuismin, Outi ; Korpi-Heikkila, Satu ; Pietilainen, Olli ; Aarno, Palotie ; Kurki, Mitja I. ; Hoischen, Alexander ; Need, Anna C. ; Goldstein, David B. ; Kortuem, Fanny. / De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. In: American Journal of Human Genetics. 2016 ; Vol. 99, No. 4. pp. 991-999.

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title = "De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype",

author = "Vandana Shashi and Pena, {Loren D. M.} and Katherine Kim and Barbara Burton and Maja Hempel and Kelly Schoch and Magdalena Walkiewicz and McLaughlin, {Heather M.} and Megan Cho and Nicholas Stong and Hickey, {Scott E.} and Shuss, {Christine M.} and Freemark, {Michael S.} and Bellet, {Jane S.} and Keels, {Martha Ann} and Bonner, {Melanie J.} and Maysantoine El-Dairi and Megan Butler and Kranz, {Peter G.} and Stumpel, {Constance T. R. M.} and Sylvia Klinkenberg and Karin Oberndorff and Malik Alawi and Rene Santer and Slave Petrovski and Outi Kuismin and Satu Korpi-Heikkila and Olli Pietilainen and Palotie Aarno and Kurki, {Mitja I.} and Alexander Hoischen and Need, {Anna C.} and Goldstein, {David B.} and Fanny Kortuem",

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Shashi, V, Pena, LDM, Kim, K, Burton, B, Hempel, M, Schoch, K, Walkiewicz, M, McLaughlin, HM, Cho, M, Stong, N, Hickey, SE, Shuss, CM, Freemark, MS, Bellet, JS, Keels, MA, Bonner, MJ, El-Dairi, M, Butler, M, Kranz, PG, Stumpel, CTRM , Klinkenberg, S, Oberndorff, K, Alawi, M, Santer, R, Petrovski, S, Kuismin, O, Korpi-Heikkila, S, Pietilainen, O, Aarno, P, Kurki, MI, Hoischen, A, Need, AC, Goldstein, DB & Kortuem, F 2016, 'De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype', American Journal of Human Genetics, vol. 99, no. 4, pp. 991-999. https://doi.org/10.1016/j.ajhg.2016.08.017

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. / Shashi, Vandana; Pena, Loren D. M.; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M.; Cho, Megan; Stong, Nicholas; Hickey, Scott E.; Shuss, Christine M.; Freemark, Michael S.; Bellet, Jane S.; Keels, Martha Ann; Bonner, Melanie J.; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G.; Stumpel, Constance T. R. M.; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slave; Kuismin, Outi; Korpi-Heikkila, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I.; Hoischen, Alexander; Need, Anna C.; Goldstein, David B.; Kortuem, Fanny.

In: American Journal of Human Genetics, Vol. 99, No. 4, 06.10.2016, p. 991-999.

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

TY - JOUR

T1 - De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

AU - Shashi, Vandana

AU - Pena, Loren D. M.

AU - Kim, Katherine

AU - Burton, Barbara

AU - Hempel, Maja

AU - Schoch, Kelly

AU - Walkiewicz, Magdalena

AU - McLaughlin, Heather M.

AU - Cho, Megan

AU - Stong, Nicholas

AU - Hickey, Scott E.

AU - Shuss, Christine M.

AU - Freemark, Michael S.

AU - Bellet, Jane S.

AU - Keels, Martha Ann

AU - Bonner, Melanie J.

AU - El-Dairi, Maysantoine

AU - Butler, Megan

AU - Kranz, Peter G.

AU - Stumpel, Constance T. R. M.

AU - Klinkenberg, Sylvia

AU - Oberndorff, Karin

AU - Alawi, Malik

AU - Santer, Rene

AU - Petrovski, Slave

AU - Kuismin, Outi

AU - Korpi-Heikkila, Satu

AU - Pietilainen, Olli

AU - Aarno, Palotie

AU - Kurki, Mitja I.

AU - Hoischen, Alexander

AU - Need, Anna C.

AU - Goldstein, David B.

AU - Kortuem, Fanny

PY - 2016/10/6

Y1 - 2016/10/6

U2 - 10.1016/j.ajhg.2016.08.017

DO - 10.1016/j.ajhg.2016.08.017

M3 - Article

C2 - 27693232

VL - 99

SP - 991

EP - 999

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 4

ER -