Publications:

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: TTN: 75469C>T; R25157*

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: TTN: R25157*

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 55

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A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

European Journal Of Human Genetics : Ejhg

Perić, Stojan S; Glumac, Jelena Nikodinović JN; Töpf, Ana A; Savić-Pavićević, Dušanka D; Phillips, Lauren L; Johnson, Katherine K; Cassop-Thompson, Marcus M; Xu, Liwen L; Bertoli, Marta M; Lek, Monkol M; MacArthur, Daniel D; Brkušanin, Miloš M; Milenković, Sanja S; Rašić, Vedrana Milić VM; Banko, Bojan B; Maksimović, Ružica R; Lochmüller, Hanns H; Stojanović, Vidosava Rakočević VR; Straub, Volker V

Publication Date: 2017-05

Variant appearance in text: TTN: 75469C>T

PubMed Link: 28295036

Variant Present in the following documents:

• Main text

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: TTN: R25157*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page