Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TTN: 103360del; Glu34454fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 103360del; Glu34454Asnfs

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: 103360del; E34454Nfs*3

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

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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: 103360delG

PubMed Link: 28295036

Variant Present in the following documents:

• Main text

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