De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations

E. E. Palmer; S. Hong; F. Al Zahrani; M. Omar Hashem; F. A. Aleisa; H. M. Jalal Ahmed; T. Kandula; R. Macintosh; A. Minoche; C. Puttick; V. Gayevskiy; A. P. Drew; M. J. Cowley; M. E. Dinger; J. A. Rosenfeld; R. Xiao; M. T. Cho; L. B. Henderson; M. J. Guillen Sacoto; A. Begtrup; M. Hamad; M. Shinawi; M. Andrews; M. C. Jones; K. Lindstrom; S. Kayani; M. Snyder; M. Villanueva; A. Schteinschnaider; T. Roscioli; E. P. Kirk; A. Bye; J. Merzaban; L. Jaremko; M. Jaremko; R. K. Sachdev; F. S. Alkuraya; S. T. Arold

De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations

E. E. Palmer, S. Hong, F. Al Zahrani, M. Omar Hashem, F. A. Aleisa, H. M. Jalal Ahmed, T. Kandula, R. Macintosh, A. Minoche, C. Puttick, V. Gayevskiy, A. P. Drew, M. J. Cowley, M. E. Dinger, J. A. Rosenfeld, R. Xiao, M. T. Cho, L. B. Henderson, M. J. Guillen Sacoto, A. BegtrupM. Hamad, M. Shinawi, M. Andrews, M. C. Jones, K. Lindstrom, S. Kayani, M. Snyder, M. Villanueva, A. Schteinschnaider, T. Roscioli, E. P. Kirk, A. Bye, J. Merzaban, L. Jaremko, M. Jaremko, R. K. Sachdev, F. S. Alkuraya, S. T. Arold

Biological, Environmental Sciences and Engineering

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Pages (from-to)	213-214
Number of pages	2
Journal	European Journal of Human Genetics
Volume	27
State	Published - Jul 2019
Event	51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) - Milan, Italy Duration: Jun 16 2018 → Jun 19 2018

Cite this

Palmer, E. E., Hong, S., Al Zahrani, F., Hashem, M. O., Aleisa, F. A., Ahmed, H. M. J., Kandula, T., Macintosh, R., Minoche, A., Puttick, C., Gayevskiy, V., Drew, A. P., Cowley, M. J., Dinger, M. E., Rosenfeld, J. A., Xiao, R., Cho, M. T., Henderson, L. B., Sacoto, M. J. G., ... Arold, S. T. (2019). De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations. European Journal of Human Genetics, 27, 213-214.

@article{078e0aed0cfb4128aeadcf23827647ea,

title = "De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations",

author = "Palmer, {E. E.} and S. Hong and {Al Zahrani}, F. and Hashem, {M. Omar} and Aleisa, {F. A.} and Ahmed, {H. M. Jalal} and T. Kandula and R. Macintosh and A. Minoche and C. Puttick and V. Gayevskiy and Drew, {A. P.} and Cowley, {M. J.} and Dinger, {M. E.} and Rosenfeld, {J. A.} and R. Xiao and Cho, {M. T.} and Henderson, {L. B.} and Sacoto, {M. J. Guillen} and A. Begtrup and M. Hamad and M. Shinawi and M. Andrews and Jones, {M. C.} and K. Lindstrom and S. Kayani and M. Snyder and M. Villanueva and A. Schteinschnaider and T. Roscioli and Kirk, {E. P.} and A. Bye and J. Merzaban and L. Jaremko and M. Jaremko and Sachdev, {R. K.} and Alkuraya, {F. S.} and Arold, {S. T.}",

year = "2019",

month = jul,

language = "English",

volume = "27",

pages = "213--214",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

note = "51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) ; Conference date: 16-06-2018 Through 19-06-2018",

}

Palmer, EE, Hong, S, Al Zahrani, F, Hashem, MO, Aleisa, FA, Ahmed, HMJ, Kandula, T, Macintosh, R, Minoche, A, Puttick, C, Gayevskiy, V, Drew, AP, Cowley, MJ, Dinger, ME, Rosenfeld, JA, Xiao, R, Cho, MT, Henderson, LB, Sacoto, MJG, Begtrup, A, Hamad, M, Shinawi, M, Andrews, M, Jones, MC, Lindstrom, K, Kayani, S, Snyder, M, Villanueva, M, Schteinschnaider, A, Roscioli, T, Kirk, EP, Bye, A, Merzaban, J , Jaremko, L , Jaremko, M, Sachdev, RK, Alkuraya, FS & Arold, ST 2019, 'De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations', European Journal of Human Genetics, vol. 27, pp. 213-214.

TY - JOUR

T1 - De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations

AU - Palmer, E. E.

AU - Hong, S.

AU - Al Zahrani, F.

AU - Hashem, M. Omar

AU - Aleisa, F. A.

AU - Ahmed, H. M. Jalal

AU - Kandula, T.

AU - Macintosh, R.

AU - Minoche, A.

AU - Puttick, C.

AU - Gayevskiy, V.

AU - Drew, A. P.

AU - Cowley, M. J.

AU - Dinger, M. E.

AU - Rosenfeld, J. A.

AU - Xiao, R.

AU - Cho, M. T.

AU - Henderson, L. B.

AU - Sacoto, M. J. Guillen

AU - Begtrup, A.

AU - Hamad, M.

AU - Shinawi, M.

AU - Andrews, M.

AU - Jones, M. C.

AU - Lindstrom, K.

AU - Kayani, S.

AU - Snyder, M.

AU - Villanueva, M.

AU - Schteinschnaider, A.

AU - Roscioli, T.

AU - Kirk, E. P.

AU - Bye, A.

AU - Merzaban, J.

AU - Jaremko, L.

AU - Jaremko, M.

AU - Sachdev, R. K.

AU - Alkuraya, F. S.

AU - Arold, S. T.

PY - 2019/7

Y1 - 2019/7

M3 - Meeting Abstract

SN - 1018-4813

VL - 27

SP - 213

EP - 214

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

T2 - 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Y2 - 16 June 2018 through 19 June 2018

ER -