Publications:

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A deep learning approach identifies new ECG features in congenital long QT syndrome.

Bmc Medicine

Aufiero, Simona S; Bleijendaal, Hidde H; Robyns, Tomas T; Vandenberk, Bert B; Krijger, Christian C; Bezzina, Connie C; Zwinderman, Aeilko H AH; Wilde, Arthur A M AAM; Pinto, Yigal M YM

Publication Date: 2022-05-03

Variant appearance in text: SCN5A: Arg14del

PubMed Link: 35501785

Variant Present in the following documents:

• 12916_2022_Article_2350.pdf

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Human Induced Pluripotent Stem Cell as a Disease Modeling and Drug Development Platform-A Cardiac Perspective.

Cells

Bekhite, Mohamed M MM; Schulze, P Christian PC

Publication Date: 2021-12-09

Variant appearance in text: SCN5A: R14del

PubMed Link: 34943991

Variant Present in the following documents:

• cells-10-03483.pdf

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Application of the Pluripotent Stem Cells and Genomics in Cardiovascular Research-What We Have Learnt and Not Learnt until Now.

Cells

Simeon, Michael M; Dangwal, Seema S; Sachinidis, Agapios A; Doss, Michael Xavier MX

Publication Date: 2021-11-10

Variant appearance in text: SCN5A: R14del

PubMed Link: 34831333

Variant Present in the following documents:

• Main text

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Electrical Ventricular Remodeling in Dilated Cardiomyopathy.

Cells

Mages, Christine C; Gampp, Heike H; Syren, Pascal P; Rahm, Ann-Kathrin AK; André, Florian F; Frey, Norbert N; Lugenbiel, Patrick P; Thomas, Dierk D

Publication Date: 2021-10-15

Variant appearance in text: SCN5A: R14del

PubMed Link: 34685747

Variant Present in the following documents:

• cells-10-02767.pdf

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Cardiac radiotherapy induces electrical conduction reprogramming in the absence of transmural fibrosis.

Nature Communications

Zhang, David M DM; Navara, Rachita R; Yin, Tiankai T; Szymanski, Jeffrey J; Goldsztejn, Uri U; Kenkel, Camryn C; Lang, Adam A; Mpoy, Cedric C; Lipovsky, Catherine E CE; Qiao, Yun Y; Hicks, Stephanie S; Li, Gang G; Moore, Kaitlin M S KMS; Bergom, Carmen C; Rogers, Buck E BE; Robinson, Clifford G CG; Cuculich, Phillip S PS; Schwarz, Julie K JK; Rentschler, Stacey L SL

Publication Date: 2021-09-24

Variant appearance in text: Nav1.5: R14del

PubMed Link: 34561429

Variant Present in the following documents:

• 41467_2021_Article_25730.pdf

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Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.

Current Heart Failure Reports

Gerull, Brenda B; Brodehl, Andreas A

Publication Date: 2021-12

Variant appearance in text: SCN5A: Arg14del

PubMed Link: 34478111

Variant Present in the following documents:

• 11897_2021_Article_532.pdf

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Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.

Current Heart Failure Reports

Gerull, Brenda B; Brodehl, Andreas A

Publication Date: 2021-12

Variant appearance in text: SCN5A: Arg14del

PubMed Link: 34478111

Variant Present in the following documents:

• 11897_2021_Article_532.pdf

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Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure.

Korean Circulation Journal

Kim, Kyung-Hee KH; Pereira, Naveen L NL

Publication Date: 2021-10

Variant appearance in text: SCN5A: R14del

PubMed Link: 34327881

Variant Present in the following documents:

• kcj-51-797.pdf

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Journal Of Arrhythmia

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Juang, Jyh-Ming Jimmy JJ; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-06

Variant appearance in text: SCN5A: R14del

PubMed Link: 34141003

Variant Present in the following documents:

• JOA3-37-481.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: SCN5A: R14del

PubMed Link: 33803477

Variant Present in the following documents:

• Main text
• jcm-10-01149.pdf

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Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach.

Journal Of Personalized Medicine

Jordà, Paloma P; Toro, Rocío R; Diez, Carles C; Salazar-Mendiguchía, Joel J; Fernandez-Falgueras, Anna A; Perez-Serra, Alexandra A; Coll, Monica M; Puigmulé, Marta M; Arbelo, Elena E; García-Álvarez, Ana A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Tiron, Coloma C; Iglesias, Anna A; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2021-02-15

Variant appearance in text: SCN5A: R14del

PubMed Link: 33671899

Variant Present in the following documents:

• Main text
• jpm-11-00130.pdf

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Mechanotransduction and Adrenergic Stimulation in Arrhythmogenic Cardiomyopathy: An Overview of in vitro and in vivo Models.

Frontiers In Physiology

Beffagna, Giorgia G; Sommariva, Elena E; Bellin, Milena M

Publication Date: 2020

Variant appearance in text: Nav1.5: R14del

PubMed Link: 33281612

Variant Present in the following documents:

• fphys-11-568535.pdf

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Heart Rhythm

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Jimmy Juang, Jyh-Ming JM; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-01

Variant appearance in text: SCN5A: R14del

PubMed Link: 33091602

Variant Present in the following documents:

• nihms-1704401.pdf

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The Role of MicroRNAs in Arrhythmogenic Cardiomyopathy: Biomarkers or Innocent Bystanders of Disease Progression?

International Journal Of Molecular Sciences

Bueno Marinas, Maria M; Celeghin, Rudy R; Cason, Marco M; Thiene, Gaetano G; Basso, Cristina C; Pilichou, Kalliopi K

Publication Date: 2020-09-03

Variant appearance in text: SCN5A: Arg14del

PubMed Link: 32899376

Variant Present in the following documents:

• ijms-21-06434.pdf

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Multi-Modality Imaging in Dilated Cardiomyopathy: With a Focus on the Role of Cardiac Magnetic Resonance.

Frontiers In Cardiovascular Medicine

Mitropoulou, Panagiota P; Georgiopoulos, Georgios G; Figliozzi, Stefano S; Klettas, Dimitrios D; Nicoli, Flavia F; Masci, Pier Giorgio PG

Publication Date: 2020

Variant appearance in text: SCN5A: R14del

PubMed Link: 32714942

Variant Present in the following documents:

• fcvm-07-00097.pdf

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Stem Cells in Cardiovascular Medicine: Historical Overview and Future Prospects.

Cells

Samak, Mostafa M; Hinkel, Rabea R

Publication Date: 2019-11-27

Variant appearance in text: SCN5A: R14del

PubMed Link: 31783680

Variant Present in the following documents:

• Main text
• cells-08-01530.pdf

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Interplay of cell-cell contacts and RhoA/MRTF-A signaling regulates cardiomyocyte identity.

The Embo Journal

Dorn, Tatjana T; Kornherr, Jessica J; Parrotta, Elvira I EI; Zawada, Dorota D; Ayetey, Harold H; Santamaria, Gianluca G; Iop, Laura L; Mastantuono, Elisa E; Sinnecker, Daniel D; Goedel, Alexander A; Dirschinger, Ralf J RJ; My, Ilaria I; Laue, Svenja S; Bozoglu, Tarik T; Baarlink, Christian C; Ziegler, Tilman T; Graf, Elisabeth E; Hinkel, Rabea R; Cuda, Giovanni G; Kääb, Stefan S; Grace, Andrew A AA; Grosse, Robert R; Kupatt, Christian C; Meitinger, Thomas T; Smith, Austin G AG; Laugwitz, Karl-Ludwig KL; Moretti, Alessandra A

Publication Date: 2018-06-15

Variant appearance in text: SCN5A: R14del

PubMed Link: 29764980

Variant Present in the following documents:

• EMBJ-37-e98133-s001.pdf

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Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient.

Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology

Wang, Weijia W; James, Cynthia A CA; Calkins, Hugh H

Publication Date: 2019-01-01

Variant appearance in text: SCN5A: R14del

PubMed Link: 29688316

Variant Present in the following documents:

• euy063.pdf

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Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.

Journal Of Biomedical Science

Magi, Simona S; Lariccia, Vincenzo V; Maiolino, Marta M; Amoroso, Salvatore S; Gratteri, Santo S

Publication Date: 2017-08-15

Variant appearance in text: SCN5A: R14del

PubMed Link: 28810874

Variant Present in the following documents:

• 12929_2017_Article_364.pdf

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Passive ventricular remodeling in cardiac disease: focus on heterogeneity.

Frontiers In Physiology

Kessler, Elise L EL; Boulaksil, Mohamed M; van Rijen, Harold V M HV; Vos, Marc A MA; van Veen, Toon A B TA

Publication Date: 2014

Variant appearance in text: Nav1.5: R14del

PubMed Link: 25566084

Variant Present in the following documents:

• fphys-05-00482.pdf

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Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Heart (British Cardiac Society)

Lopes, Luis R LR; Syrris, Petros P; Guttmann, Oliver P OP; O'Mahony, Constantinos C; Tang, Hak Chiaw HC; Dalageorgou, Chrysoula C; Jenkins, Sharon S; Hubank, Mike M; Monserrat, Lorenzo L; McKenna, William J WJ; Plagnol, Vincent V; Elliott, Perry M PM

Publication Date: 2015-02

Variant appearance in text: SCN5A: Arg14del

PubMed Link: 25351510

Variant Present in the following documents:

• heartjnl-2014-306387-s1.pdf

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