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 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^*

^*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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10.1002/humu.23938

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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 = "John Wiley and Sons Inc.",

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

UR - https://pearl.plymouth.ac.uk/pms-research/1639/

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 -

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

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