Publications:

SpliceVault predicts the precise nature of variant-associated mis-splicing.

Nature Genetics

Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST

Publication Date: 2023-02-06

Variant appearance in text: TTN: 66769+4_66769+7del

PubMed Link: 36747048

Variant Present in the following documents:

• 41588_2022_1293_MOESM16_ESM.xlsx, sheet 2
• 41588_2022_1293_MOESM16_ESM.xlsx, sheet 1
• 41588_2022_1293_MOESM3_ESM.xlsx, sheet 1
• 41588_2022_1293_MOESM4_ESM.xlsx, sheet 1

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Annals Of Neurology

Oates, Emily C EC; Jones, Kristi J KJ; Donkervoort, Sandra S; Charlton, Amanda A; Brammah, Susan S; Smith, John E JE; Ware, James S JS; Yau, Kyle S KS; Swanson, Lindsay C LC; Whiffin, Nicola N; Peduto, Anthony J AJ; Bournazos, Adam A; Waddell, Leigh B LB; Farrar, Michelle A MA; Sampaio, Hugo A HA; Teoh, Hooi Ling HL; Lamont, Phillipa J PJ; Mowat, David D; Fitzsimons, Robin B RB; Corbett, Alastair J AJ; Ryan, Monique M MM; O'Grady, Gina L GL; Sandaradura, Sarah A SA; Ghaoui, Roula R; Joshi, Himanshu H; Marshall, Jamie L JL; Nolan, Melinda A MA; Kaur, Simranpreet S; Punetha, Jaya J; Töpf, Ana A; Harris, Elizabeth E; Bakshi, Madhura M; Genetti, Casie A CA; Marttila, Minttu M; Werlauff, Ulla U; Streichenberger, Nathalie N; Pestronk, Alan A; Mazanti, Ingrid I; Pinner, Jason R JR; Vuillerot, Carole C; Grosmann, Carla C; Camacho, Ana A; Mohassel, Payam P; Leach, Meganne E ME; Foley, A Reghan AR; Bharucha-Goebel, Diana D; Collins, James J; Connolly, Anne M AM; Gilbreath, Heather R HR; Iannaccone, Susan T ST; Castro, Diana D; Cummings, Beryl B BB; Webster, Richard I RI; Lazaro, Leïla L; Vissing, John J; Coppens, Sandra S; Deconinck, Nicolas N; Luk, Ho-Ming HM; Thomas, Neil H NH; Foulds, Nicola C NC; Illingworth, Marjorie A MA; Ellard, Sian S; McLean, Catriona A CA; Phadke, Rahul R; Ravenscroft, Gianina G; Witting, Nanna N; Hackman, Peter P; Richard, Isabelle I; Cooper, Sandra T ST; Kamsteeg, Erik-Jan EJ; Hoffman, Eric P EP; Bushby, Kate K; Straub, Volker V; Udd, Bjarne B; Ferreiro, Ana A; North, Kathryn N KN; Clarke, Nigel F NF; Lek, Monkol M; Beggs, Alan H AH; Bönnemann, Carsten G CG; MacArthur, Daniel G DG; Granzier, Henk H; Davis, Mark R MR; Laing, Nigel G NG

Publication Date: 2018-06

Variant appearance in text: TMD: 66769+4_66769+7del

PubMed Link: 29691892

Variant Present in the following documents:

• Main text
• ANA-83-1105-s002.xlsx, sheet 1

View BVdb publication page