Publications:

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: TTN: Q35278X

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Frontiers In Physiology

Desai, Darshini D; Stiene, Danielle D; Song, Taejeong T; Sadayappan, Sakthivel S

Publication Date: 2020

Variant appearance in text: TTN: Gln35278*

PubMed Link: 32670090

Variant Present in the following documents:

• Main text
• fphys-11-00689.pdf

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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: 105832C>T

PubMed Link: 29691892

Variant Present in the following documents:

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

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Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases

Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P

Publication Date: 2016-08-30

Variant appearance in text: TTN: 105832C>T

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Human Molecular Genetics

Chauveau, Claire C; Bonnemann, Carsten G CG; Julien, Cedric C; Kho, Ay Lin AL; Marks, Harold H; Talim, Beril B; Maury, Philippe P; Arne-Bes, Marie Christine MC; Uro-Coste, Emmanuelle E; Alexandrovich, Alexander A; Vihola, Anna A; Schafer, Sebastian S; Kaufmann, Beth B; Medne, Livija L; Hübner, Norbert N; Foley, A Reghan AR; Santi, Mariarita M; Udd, Bjarne B; Topaloglu, Haluk H; Moore, Steven A SA; Gotthardt, Michael M; Samuels, Mark E ME; Gautel, Mathias M; Ferreiro, Ana A

Publication Date: 2014-02-15

Variant appearance in text: TTN: Gln35278*

PubMed Link: 24105469

Variant Present in the following documents:

• Main text

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