Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in S...

por Stutzman, Marissa J., Ye, Dan, Tester, David J., Giudicessi, John R., Ackerman, Michael J.
Publicado 2018

Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential

por Stutzman, Marissa J., Kim, C.S. John, Tester, David J., Hamrick, Samantha K., Dotzler, Steven M., Giudicessi, John R., Miotto, Marco C., GC, Jeevan B., Frank, Joachim, Marks, Andrew R., Ackerman, Michael J.
Publicado 2022