Publications:

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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: 107840T>A; Ile35947Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

European Journal Of Neurology

Krenn, Martin M; Tomschik, Matthias M; Wagner, Matias M; Zulehner, Gudrun G; Weng, Rosa R; Rath, Jakob J; Klotz, Sigrid S; Gelpi, Ellen E; Bsteh, Gabriel G; Keritam, Omar O; Colonna, Isabella I; Paternostro, Chiara C; Jäger, Fiona F; Lindeck-Pozza, Elisabeth E; Iglseder, Stephan S; Grinzinger, Susanne S; Schönfelder, Martina M; Hohenwarter, Christina C; Freimüller, Manfred M; Embacher, Norbert N; Wanschitz, Julia J; Topakian, Raffi R; Töpf, Ana A; Straub, Volker V; Quasthoff, Stefan S; Zimprich, Fritz F; Löscher, Wolfgang N WN; Cetin, Hakan H

Publication Date: 2022-06

Variant appearance in text: TTN: 107840T>A; Ile35947Asn

PubMed Link: 35239206

Variant Present in the following documents:

• ENE-29-1815-s001.xlsx, sheet 1

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

European Journal Of Human Genetics : Ejhg

Matalonga, Leslie L; Hernández-Ferrer, Carles C; Piscia, Davide D; , ; Schüle, Rebecca R; Synofzik, Matthis M; Töpf, Ana A; Vissers, Lisenka E L M LELM; de Voer, Richarda R; , ; , ; , ; , ; Tonda, Raul R; Laurie, Steven S; Fernandez-Callejo, Marcos M; Picó, Daniel D; Garcia-Linares, Carles C; Papakonstantinou, Anastasios A; Corvó, Alberto A; Joshi, Ricky R; Diez, Hector H; Gut, Ivo I; Hoischen, Alexander A; Graessner, Holm H; Beltran, Sergi S; ,

Publication Date: 2021-09

Variant appearance in text: TTN: 107840T>A; Ile35947Asn

PubMed Link: 34075210

Variant Present in the following documents:

• 41431_2021_852_MOESM1_ESM.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TTN: I35947N

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: 107840T>A

PubMed Link: 29435569

Variant Present in the following documents:

• Main text

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TITINdb-a computational tool to assess titin's role as a disease gene.

Bioinformatics (Oxford, England)

Laddach, Anna A; Gautel, Mathias M; Fraternali, Franca F

Publication Date: 2017-11-01

Variant appearance in text: TMD: I35947N

PubMed Link: 29077808

Variant Present in the following documents:

• Main text
• btx424.pdf

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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Orphanet Journal Of Rare Diseases

Harris, Elizabeth E; Topf, Ana A; Barresi, Rita R; Hudson, Judith J; Powell, Helen H; Tellez, James J; Hicks, Debbie D; Porter, Anna A; Bertoli, Marta M; Evangelista, Teresinha T; Marini-Betollo, Chiara C; Magnússon, Ólafur Ó; Lek, Monkol M; MacArthur, Daniel D; Bushby, Kate K; Lochmüller, Hanns H; Straub, Volker V

Publication Date: 2017-09-06

Variant appearance in text: TTN: 107840T>A

PubMed Link: 28877744

Variant Present in the following documents:

• 13023_2017_Article_699.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: TMD: 107840T>A

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

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The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: TMD: I35947N

PubMed Link: 25961035

Variant Present in the following documents:

• Main text

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