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

Samantha J. Bryen; Lisa J. Ewans; Jason Pinner; Suzanna C. MacLennan; Sandra Donkervoort; Diana Castro; Ana Töpf; Gina O'Grady; Beryl Cummings; Katherine R. Chao; Ben Weisburd; Laurent Francioli; Fathimath Faiz; Adam M. Bournazos; Ying Hu; Carla Grosmann; Denise M. Malicki; Helen Doyle; Nanna Witting; John Vissing; Kristl G. Claeys; Kathryn Urankar; A Beleza‐Meireles; Julia Baptista; Sian Ellard; Marco Savarese; Mridul Johari; Anna Vihola; Bjarne Udd; Anirban Majumdar; Volker Straub; Carsten G. Bönnemann; Daniel G. MacArthur; Mark R. Davis; Sandra T. Cooper

doi:10.1002/humu.23938

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

Samantha J. Bryen, Lisa J. Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O'Grady, Beryl Cummings, Katherine R. Chao, Ben Weisburd, Laurent Francioli, Fathimath Faiz, Adam M. Bournazos, Ying Hu, Carla Grosmann, Denise M. Malicki, Helen Doyle, Nanna Witting, John VissingKristl G. Claeys, Kathryn Urankar, A Beleza‐Meireles, Julia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G. Bönnemann, Daniel G. MacArthur, Mark R. Davis, Sandra T. Cooper^*

^*Corresponding author for this work

Peninsula Medical School

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

Original language	English
Pages (from-to)	403-411
Number of pages	0
Journal	Human Mutation
Volume	41
Issue number	2
Early online date	3 Dec 2019
DOIs	https://doi.org/10.1002/humu.23938
Publication status	Published - Feb 2020

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Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., ... Cooper, S. T. (2020). Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Human Mutation, 41(2), 403-411. https://doi.org/10.1002/humu.23938

@article{96baedd7c04c431986d94d90f003f3b8,

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

author = "Bryen, {Samantha J.} and Ewans, {Lisa J.} and Jason Pinner and MacLennan, {Suzanna C.} and Sandra Donkervoort and Diana Castro and Ana T{\"o}pf and Gina O'Grady and Beryl Cummings and Chao, {Katherine R.} and Ben Weisburd and Laurent Francioli and Fathimath Faiz and Bournazos, {Adam M.} and Ying Hu and Carla Grosmann and Malicki, {Denise M.} and Helen Doyle and Nanna Witting and John Vissing and Claeys, {Kristl G.} and Kathryn Urankar and A Beleza‐Meireles and Julia Baptista and Sian Ellard and Marco Savarese and Mridul Johari and Anna Vihola and Bjarne Udd and Anirban Majumdar and Volker Straub and B{\"o}nnemann, {Carsten G.} and MacArthur, {Daniel G.} and Davis, {Mark R.} and Cooper, {Sandra T.}",

year = "2020",

month = feb,

doi = "10.1002/humu.23938",

language = "English",

volume = "41",

pages = "403--411",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Hindawi",

number = "2",

}

Bryen, SJ, Ewans, LJ, Pinner, J, MacLennan, SC, Donkervoort, S, Castro, D, Töpf, A, O'Grady, G, Cummings, B, Chao, KR, Weisburd, B, Francioli, L, Faiz, F, Bournazos, AM, Hu, Y, Grosmann, C, Malicki, DM, Doyle, H, Witting, N, Vissing, J, Claeys, KG, Urankar, K, Beleza‐Meireles, A, Baptista, J, Ellard, S, Savarese, M, Johari, M, Vihola, A, Udd, B, Majumdar, A, Straub, V, Bönnemann, CG, MacArthur, DG, Davis, MR & Cooper, ST 2020, 'Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy', Human Mutation, vol. 41, no. 2, pp. 403-411. 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, Samantha J.

AU - Ewans, Lisa J.

AU - Pinner, Jason

AU - MacLennan, Suzanna C.

AU - Donkervoort, Sandra

AU - Castro, Diana

AU - Töpf, Ana

AU - O'Grady, Gina

AU - Cummings, Beryl

AU - Chao, Katherine R.

AU - Weisburd, Ben

AU - Francioli, Laurent

AU - Faiz, Fathimath

AU - Bournazos, Adam M.

AU - Hu, Ying

AU - Grosmann, Carla

AU - Malicki, Denise M.

AU - Doyle, Helen

AU - Witting, Nanna

AU - Vissing, John

AU - Claeys, Kristl G.

AU - Urankar, Kathryn

AU - Beleza‐Meireles, A

AU - Baptista, Julia

AU - Ellard, Sian

AU - Savarese, Marco

AU - Johari, Mridul

AU - Vihola, Anna

AU - Udd, Bjarne

AU - Majumdar, Anirban

AU - Straub, Volker

AU - Bönnemann, Carsten G.

AU - MacArthur, Daniel G.

AU - Davis, Mark R.

AU - Cooper, Sandra T.

PY - 2020/2

Y1 - 2020/2

U2 - 10.1002/humu.23938

DO - 10.1002/humu.23938

M3 - Article

SN - 1059-7794

VL - 41

SP - 403

EP - 411

JO - Human Mutation

JF - Human Mutation

IS - 2

ER -