Publications:

---

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: RYR2: 4465T>C; Cys1489Arg

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

---

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Human Mutation

Goudal, Adeline A; Karakachoff, Matilde M; Lindenbaum, Pierre P; Baron, Estelle E; Bonnaud, Stéphanie S; Kyndt, Florence F; Arnaud, Marine M; Minois, Damien D; Bourcereau, Emmanuelle E; Thollet, Aurélie A; Deleuze, Jean-François JF; Genin, Emmanuelle E; Wiart, François F; Pasquié, Jean-Luc JL; Galand, Vincent V; Sacher, Frédéric F; Dina, Christian C; Redon, Richard R; Bezieau, Stéphane S; Schott, Jean-Jacques JJ; Probst, Vincent V; Barc, Julien J

Publication Date: 2022-09

Variant appearance in text: RYR2: 4465T>C; Cys1489Arg

PubMed Link: 35819174

Variant Present in the following documents:

• HUMU-43-1333-s001.pdf

View BVdb publication page

---

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology

Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2020

Variant appearance in text: RYR2: Cys1489Arg

PubMed Link: 33013630

Variant Present in the following documents:

• Main text
• fneur-11-00925.pdf

View BVdb publication page

---

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Journal Of The American Heart Association

Chahal, C Anwar A CAA; Salloum, Mohammad N MN; Alahdab, Fares F; Gottwald, Joseph A JA; Tester, David J DJ; Anwer, Lucman A LA; So, Elson L EL; Murad, Mohammad Hassan MH; St Louis, Erik K EK; Ackerman, Michael J MJ; Somers, Virend K VK

Publication Date: 2020-01-07

Variant appearance in text: RYR2: Cys1489Arg

PubMed Link: 31865891

Variant Present in the following documents:

• JAH3-9-e012264.pdf
• JAH3-9-e012264-s001.pdf

View BVdb publication page

---

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: RYR2: 4465T>C; C1489R

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: RYR2: 4465T>C; Cys1489Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: RYR2: 4465T>C; rs200450676

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

View BVdb publication page

---

Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Aiba, Isamu I; Wehrens, Xander H T XH; Noebels, Jeffrey L JL

Publication Date: 2016-08-16

Variant appearance in text: RYR2: C1489R

PubMed Link: 27482086

Variant Present in the following documents:

• Main text

View BVdb publication page

---