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: SCN5A: 5103G>T; Met1701Ile

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Cold Spring Harbor Molecular Case Studies

Bodian, Dale L DL; Vilboux, Thierry T; Hourigan, Suchitra K SK; Jenevein, Callie L CL; Mani, Haresh H; Kent, Kathleen C KC; Khromykh, Alina A; Solomon, Benjamin D BD; Hauser, Natalie S NS

Publication Date: 2017-11

Variant appearance in text: SCN5A: 5103G>T

PubMed Link: 28701297

Variant Present in the following documents:

• Main text
• BodianMCS002055.pdf

View BVdb publication page