Publications:

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Plos One

Babić Božović, Ivana I; Maver, Aleš A; Leonardis, Lea L; Meznaric, Marija M; Osredkar, Damjan D; Peterlin, Borut B

Publication Date: 2021

Variant appearance in text: TTN: 107635C>T; Gln35879Ter

PubMed Link: 34106991

Variant Present in the following documents:

• Main text
• pone.0252953.pdf

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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: 107635C>T; Q35879*

PubMed Link: 32528171

Variant Present in the following documents:

• Main text
• 41436_2020_Article_840.pdf
• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: TTN: 107635C>T; Gln35879Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Jama Neurology

Savarese, Marco M; Maggi, Lorenzo L; Vihola, Anna A; Jonson, Per Harald PH; Tasca, Giorgio G; Ruggiero, Lucia L; Bello, Luca L; Magri, Francesca F; Giugliano, Teresa T; Torella, Annalaura A; Evilä, Anni A; Di Fruscio, Giuseppina G; Vanakker, Olivier O; Gibertini, Sara S; Vercelli, Liliana L; Ruggieri, Alessandra A; Antozzi, Carlo C; Luque, Helena H; Janssens, Sandra S; Pasanisi, Maria Barbara MB; Fiorillo, Chiara C; Raimondi, Monika M; Ergoli, Manuela M; Politano, Luisa L; Bruno, Claudio C; Rubegni, Anna A; Pane, Marika M; Santorelli, Filippo M FM; Minetti, Carlo C; Angelini, Corrado C; De Bleecker, Jan J; Moggio, Maurizio M; Mongini, Tiziana T; Comi, Giacomo Pietro GP; Santoro, Lucio L; Mercuri, Eugenio E; Pegoraro, Elena E; Mora, Marina M; Hackman, Peter P; Udd, Bjarne B; Nigro, Vincenzo V

Publication Date: 2018-05-01

Variant appearance in text: TTN: 107635C>T

PubMed Link: 29435569

Variant Present in the following documents:

• Main text

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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: 107635C>T

PubMed Link: 28295036

Variant Present in the following documents:

• Main text

View BVdb publication page