Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

S.J. Bryen; K.R. Chao; B. Weisburd; L. Francioli; F. Faiz; A.M. Bournazos; Y. Hu; C. Grosmann; D.M. Malicki; H. Doyle; N. Witting; L.J. Ewans; J. Vissing; K.G. Claeys; K. Urankar; A. Beleza-Meireles; J. Baptista; S. Ellard; M. Savarese; M. Johari; A. Vihola; B. Udd; J. Pinner; A. Majumdar; V. Straub; C.G. Bönnemann; D.G. MacArthur; M.R. Davis; S.T. Cooper; S.C. MacLennan; S. Donkervoort; D. Castro; A. Töpf; G. O'Grady; B. Cummings

doi:10.1002/humu.23938

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

S.J. Bryen, K.R. Chao, B. Weisburd, L. Francioli, F. Faiz, A.M. Bournazos, Y. Hu, C. Grosmann, D.M. Malicki, H. Doyle, N. Witting, L.J. Ewans, J. Vissing, K.G. Claeys, K. Urankar, A. Beleza-Meireles, J. Baptista, S. Ellard, M. Savarese, M. JohariA. Vihola, B. Udd, J. Pinner, A. Majumdar, V. Straub, C.G. Bönnemann, D.G. MacArthur, M.R. Davis, S.T. Cooper, S.C. MacLennan, S. Donkervoort, D. Castro, A. Töpf, G. O'Grady, B. Cummings

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

30 Citations (Scopus)

Original language	English
Journal	HUMAN MUTATION
DOIs	https://doi.org/10.1002/humu.23938
Publication status	Published - 2019
Publication type	A1 Journal article-refereed

Keywords

TTN metatranscript-only
alternative splicing
arthrogryposis
congenital titinopathies
intronic splice variant

Publication forum classification

Publication forum level 2

Access to Document

10.1002/humu.23938

Cite this

Bryen, S. J., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Ewans, L. J., Vissing, J., Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., ... Cummings, B. (2019). Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. HUMAN MUTATION. https://doi.org/10.1002/humu.23938

@article{38ccdfb8656149f28f770731c6586819,

title = "Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy",

keywords = "TTN metatranscript-only, alternative splicing, arthrogryposis, congenital titinopathies, intronic splice variant, TTN metatranscript-only, alternative splicing, arthrogryposis, congenital titinopathies, intronic splice variant",

author = "S.J. Bryen and K.R. Chao and B. Weisburd and L. Francioli and F. Faiz and A.M. Bournazos and Y. Hu and C. Grosmann and D.M. Malicki and H. Doyle and N. Witting and L.J. Ewans and J. Vissing and K.G. Claeys and K. Urankar and A. Beleza-Meireles and J. Baptista and S. Ellard and M. Savarese and M. Johari and A. Vihola and B. Udd and J. Pinner and A. Majumdar and V. Straub and C.G. B{\"o}nnemann and D.G. MacArthur and M.R. Davis and S.T. Cooper and S.C. MacLennan and S. Donkervoort and D. Castro and A. T{\"o}pf and G. O'Grady and B. Cummings",

year = "2019",

doi = "10.1002/humu.23938",

language = "English",

journal = "HUMAN MUTATION",

issn = "1059-7794",

publisher = "Wiley",

}

Bryen, SJ, Chao, KR, Weisburd, B, Francioli, L, Faiz, F, Bournazos, AM, Hu, Y, Grosmann, C, Malicki, DM, Doyle, H, Witting, N, Ewans, LJ, Vissing, J, Claeys, KG, Urankar, K, Beleza-Meireles, A, Baptista, J, Ellard, S, Savarese, M, Johari, M, Vihola, A, Udd, B, Pinner, J, Majumdar, A, Straub, V, Bönnemann, CG, MacArthur, DG, Davis, MR, Cooper, ST, MacLennan, SC, Donkervoort, S, Castro, D, Töpf, A, O'Grady, G & Cummings, B 2019, 'Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy', HUMAN MUTATION. https://doi.org/10.1002/humu.23938

TY - JOUR

T1 - Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

AU - Bryen, S.J.

AU - Chao, K.R.

AU - Weisburd, B.

AU - Francioli, L.

AU - Faiz, F.

AU - Bournazos, A.M.

AU - Hu, Y.

AU - Grosmann, C.

AU - Malicki, D.M.

AU - Doyle, H.

AU - Witting, N.

AU - Ewans, L.J.

AU - Vissing, J.

AU - Claeys, K.G.

AU - Urankar, K.

AU - Beleza-Meireles, A.

AU - Baptista, J.

AU - Ellard, S.

AU - Savarese, M.

AU - Johari, M.

AU - Vihola, A.

AU - Udd, B.

AU - Pinner, J.

AU - Majumdar, A.

AU - Straub, V.

AU - Bönnemann, C.G.

AU - MacArthur, D.G.

AU - Davis, M.R.

AU - Cooper, S.T.

AU - MacLennan, S.C.

AU - Donkervoort, S.

AU - Castro, D.

AU - Töpf, A.

AU - O'Grady, G.

AU - Cummings, B.

PY - 2019

Y1 - 2019

KW - TTN metatranscript-only

KW - alternative splicing

KW - arthrogryposis

KW - congenital titinopathies

KW - intronic splice variant

KW - TTN metatranscript-only

KW - alternative splicing

KW - arthrogryposis

KW - congenital titinopathies

KW - intronic splice variant

U2 - 10.1002/humu.23938

DO - 10.1002/humu.23938

M3 - Article

SN - 1059-7794

JO - HUMAN MUTATION

JF - HUMAN MUTATION

ER -