Publications:

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Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine

Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW

Publication Date: 2022-10-20

Variant appearance in text: TTN: Trp34072Arg; rs375159973

PubMed Link: 36264615

Variant Present in the following documents:

• hcg-15-e003704-s001.pdf

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: TTN: W34072R

PubMed Link: 34819141

Variant Present in the following documents:

• Main text

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: TTN: W34072R

PubMed Link: 34819141

Variant Present in the following documents:

• Main text

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Making sense of missense variants in TTN-related congenital myopathies.

Acta Neuropathologica

Rees, Martin M; Nikoopour, Roksana R; Fukuzawa, Atsushi A; Kho, Ay Lin AL; Fernandez-Garcia, Miguel A MA; Wraige, Elizabeth E; Bodi, Istvan I; Deshpande, Charu C; Özdemir, Özkan Ö; Daimagüler, Hülya-Sevcan HS; Pfuhl, Mark M; Holt, Mark M; Brandmeier, Birgit B; Grover, Sarah S; Fluss, Joël J; Longman, Cheryl C; Farrugia, Maria Elena ME; Matthews, Emma E; Hanna, Michael M; Muntoni, Francesco F; Sarkozy, Anna A; Phadke, Rahul R; Quinlivan, Ros R; Oates, Emily C EC; Schröder, Rolf R; Thiel, Christian C; Reimann, Jens J; Voermans, Nicol N; Erasmus, Corrie C; Kamsteeg, Erik-Jan EJ; Konersman, Chaminda C; Grosmann, Carla C; McKee, Shane S; Tirupathi, Sandya S; Moore, Steven A SA; Wilichowski, Ekkehard E; Hobbiebrunken, Elke E; Dekomien, Gabriele G; Richard, Isabelle I; Van den Bergh, Peter P; Domínguez-González, Cristina C; Cirak, Sebahattin S; Ferreiro, Ana A; Jungbluth, Heinz H; Gautel, Mathias M

Publication Date: 2021-03

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 33449170

Variant Present in the following documents:

• Main text
• 401_2020_Article_2257.pdf

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Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Frontiers In Physiology

Desai, Darshini D; Stiene, Danielle D; Song, Taejeong T; Sadayappan, Sakthivel S

Publication Date: 2020

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 32670090

Variant Present in the following documents:

• Main text
• fphys-11-00689.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TTN: 102214T>C; Trp34072Arg; rs375159973

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Journal Of Neuromuscular Diseases

Savarese, Marco M; Välipakka, Salla S; Johari, Mridul M; Hackman, Peter P; Udd, Bjarne B

Publication Date: 2020

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 32176652

Variant Present in the following documents:

• Main text
• jnd-7-jnd190459.pdf

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: TTN: 102214T>C; Trp34072Arg

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 3

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Advanced Evolution of Pathogenesis Concepts in Cardiomyopathies.

Journal Of Clinical Medicine

Li, Chia-Jung CJ; Chen, Chien-Sheng CS; Yiang, Giou-Teng GT; Tsai, Andy Po-Yi AP; Liao, Wan-Ting WT; Wu, Meng-Yu MY

Publication Date: 2019-04-16

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 30995779

Variant Present in the following documents:

• Main text
• jcm-08-00520.pdf

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: TTN: W34072R; rs375159973

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 1

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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: TTN: 102214T>C

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Human Molecular Genetics

Chauveau, Claire C; Bonnemann, Carsten G CG; Julien, Cedric C; Kho, Ay Lin AL; Marks, Harold H; Talim, Beril B; Maury, Philippe P; Arne-Bes, Marie Christine MC; Uro-Coste, Emmanuelle E; Alexandrovich, Alexander A; Vihola, Anna A; Schafer, Sebastian S; Kaufmann, Beth B; Medne, Livija L; Hübner, Norbert N; Foley, A Reghan AR; Santi, Mariarita M; Udd, Bjarne B; Topaloglu, Haluk H; Moore, Steven A SA; Gotthardt, Michael M; Samuels, Mark E ME; Gautel, Mathias M; Ferreiro, Ana A

Publication Date: 2014-02-15

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 24105469

Variant Present in the following documents:

• Main text

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