Publications:

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Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Medrxiv : The Preprint Server For Health Sciences

Josephs, Katherine S KS; Roberts, Angharad M AM; Theotokis, Pantazis P; Walsh, Roddy R; Ostrowski, Philip J PJ; Edwards, Matthew M; Fleming, Andrew A; Thaxton, Courtney C; Roberts, Jason D JD; Care, Melanie M; Zareba, Wojciech W; Adler, Arnon A; Sturm, Amy C AC; Tadros, Rafik R; Novelli, Valeria V; Owens, Emma E; Bronicki, Lucas L; Jarinova, Olga O; Callewaert, Bert B; Peters, Stacey S; Lumbers, Tom T; Jordan, Elizabeth E; Asatryan, Babken B; Krishnan, Neesha N; Hershberger, Ray E RE; Chahal, C Anwar A CAA; Landstrom, Andrew P AP; James, Cynthia C; McNally, Elizabeth M EM; Judge, Daniel P DP; van Tintelen, Peter P; Wilde, Arthur A; Gollob, Michael M; Ingles, Jodie J; Ware, James S JS

Publication Date: 2023-04-03

Variant appearance in text: TTN: Trp976Arg

PubMed Link: 37066275

Variant Present in the following documents:

• media-2.xlsx, sheet 2

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Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Frontiers In Cell And Developmental Biology

Jiang, Xue X; Chen, Yihuan Y; Liu, Xiaofeng X; Ye, Lingqun L; Yu, Miao M; Shen, Zhenya Z; Lei, Wei W; Hu, Shijun S

Publication Date: 2021

Variant appearance in text: TTN: W976R

PubMed Link: 34079803

Variant Present in the following documents:

• Main text
• fcell-09-672039.pdf

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Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

Journal Of Clinical Medicine

My, Ilaria I; Di Pasquale, Elisa E

Publication Date: 2021-03-09

Variant appearance in text: TTN: W976R

PubMed Link: 33803477

Variant Present in the following documents:

• Main text
• jcm-10-01149.pdf

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Trends and Limitations in the Assessment of the Contractile Properties of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes From Patients With Dilated Cardiomyopathy.

Frontiers In Cardiovascular Medicine

Ito, Masamichi M; Nomura, Seitaro S; Morita, Hiroyuki H; Komuro, Issei I

Publication Date: 2020

Variant appearance in text: TTN: W976R

PubMed Link: 33102534

Variant Present in the following documents:

• Main text
• fcvm-07-00154.pdf

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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences

Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H

Publication Date: 2019-09-06

Variant appearance in text: TTN: W976R

PubMed Link: 31489928

Variant Present in the following documents:

• Main text
• ijms-20-04381.pdf

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The giant titin: how to evaluate its role in cardiomyopathies.

Journal Of Muscle Research And Cell Motility

Azad, Amar A; Poloni, Giulia G; Sontayananon, Naeramit N; Jiang, He H; Gehmlich, Katja K

Publication Date: 2019-06

Variant appearance in text: TTN: Trp976Arg

PubMed Link: 31147888

Variant Present in the following documents:

• Main text
• 10974_2019_Article_9518.pdf

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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: W976R

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Concise Review: The Current State of Human In Vitro Cardiac Disease Modeling: A Focus on Gene Editing and Tissue Engineering.

Stem Cells Translational Medicine

Hoes, Martijn F MF; Bomer, Nils N; van der Meer, Peter P

Publication Date: 2019-01

Variant appearance in text: TTN: W976R

PubMed Link: 30302938

Variant Present in the following documents:

• Main text
• SCT3-8-66.pdf

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When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.

Journal Of Muscle Research And Cell Motility

Ehsan, Mehroz M; Jiang, He H; L Thomson, Kate K; Gehmlich, Katja K

Publication Date: 2017-08

Variant appearance in text: TTN: W976R

PubMed Link: 29119312

Variant Present in the following documents:

• Main text
• 10974_2017_Article_9487.pdf

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

Variant appearance in text: TTN: W976R

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.pdf

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Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

Circulation. Cardiovascular Genetics

Hastings, Robert R; de Villiers, Carin P CP; Hooper, Charlotte C; Ormondroyd, Liz L; Pagnamenta, Alistair A; Lise, Stefano S; Salatino, Silvia S; Knight, Samantha J L SJ; Taylor, Jenny C JC; Thomson, Kate L KL; Arnold, Linda L; Chatziefthimiou, Spyros D SD; Konarev, Petr V PV; Wilmanns, Matthias M; Ehler, Elisabeth E; Ghisleni, Andrea A; Gautel, Mathias M; Blair, Edward E; Watkins, Hugh H; Gehmlich, Katja K

Publication Date: 2016-10

Variant appearance in text: TTN: W976R

PubMed Link: 27625337

Variant Present in the following documents:

• Main text
• hcg-9-426-s002.pdf
• hcg-9-426.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CMD1G: W976R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

Science (New York, N.Y.)

Hinson, John T JT; Chopra, Anant A; Nafissi, Navid N; Polacheck, William J WJ; Benson, Craig C CC; Swist, Sandra S; Gorham, Joshua J; Yang, Luhan L; Schafer, Sebastian S; Sheng, Calvin C CC; Haghighi, Alireza A; Homsy, Jason J; Hubner, Norbert N; Church, George G; Cook, Stuart A SA; Linke, Wolfgang A WA; Chen, Christopher S CS; Seidman, J G JG; Seidman, Christine E CE

Publication Date: 2015-08-28

Variant appearance in text: TTN: W976R

PubMed Link: 26315439

Variant Present in the following documents:

• Main text

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