Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients

por Spoonamore, Katherine G., Johnson, Nicole M.
Publicado 2016

Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders

por Celestino-Soper, Patrícia B. S., Gao, Hongyu, Lynnes, Ty C., Lin, Hai, Liu, Yunlong, Spoonamore, Katherine G., Chen, Peng-Sheng, Vatta, Matteo
Publicado 2017

Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization

por Murayama, Rie, Kimura-Asami, Mariko, Togo-Ohno, Marina, Yamasaki-Kato, Yumiko, Naruse, Taeko K., Yamamoto, Takeshi, Hayashi, Takeharu, Ai, Tomohiko, Spoonamore, Katherine G., Kovacs, Richard J., Vatta, Matteo, Iizuka, Mai, Saito, Masumi, Wani, Shotaro, Hiraoka, Yuichi, Kimura, Akinori, Kuroyanagi, Hidehito
Publicado 2018

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp...

por Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit
Publicado 2018