Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy von Bryen, S.J, Ewans, L, 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, Malicki, D.M, Doyle, H, Witting, N, Vissing, J, Claeys, Kristl, Urankar, K, Beleza-Meireles, A, Baptista, J, Ellard, S, Majumdar, A, Straub, V, Bonnemann, C, MacArthur, D, Davis, M, Cooper, S

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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy von Bryen, S.J, Ewans, L, Pinner, J, MacLennan, S.C, Donkervoort, S, Castro, D, Töpf, Ana, O'Grady, G, Cummings, B, Chao, K.R, Weisburd, B, Francioli, L, Faiz, F, Bournazos, A.M, Hu, Y, Malicki, D.M, Doyle, H, Witting, N, Vissing, J, Claeys, Kristl, Urankar, K, Beleza-Meireles, A, Baptista, J, Ellard, S, Majumdar, A, Straub, Volker, Bonnemann, Carsten, MacArthur, Daniel, Davis, M, Cooper, S

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Functional conservation of atonal and Math1 in the CNS and PNS von Ben-Arie, N., Hassan, B. A., Bermingham, N. A., Malicki, D. M., Armstrong, D., Matzuk, M., Bellen, H. J., Zoghbi, H. Y.

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