An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome

por Crenshaw, Molly M., Graw, Sharon L., Slavov, Dobromir, Boyle, Theresa A., Piqué, Daniel G., Taylor, Matthew, Baker, Peter
Publicado 2023

Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder

por Graw, Sharon L, Swisshelm, Karen, Floyd, Kirsten, Carstens, Billie J, Wamboldt, Marianne Z, Ross, Randall G, Leonard, Sherry
Publicado 2012

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

por Gigli, Marta, Begay, Rene L., Morea, Gaetano, Graw, Sharon L., Sinagra, Gianfranco, Taylor, Matthew R. G., Granzier, Henk, Mestroni, Luisa
Publicado 2016

Transcriptome analysis of human heart failure reveals dysregulated cell adhesion in dilated cardiomyopathy and activated immune pathways in ischemic heart failure

por Sweet, Mary E., Cocciolo, Andrea, Slavov, Dobromir, Jones, Kenneth L., Sweet, Joseph R., Graw, Sharon L., Reece, T. Brett, Ambardekar, Amrut V., Bristow, Michael R., Mestroni, Luisa, Taylor, Matthew R. G.
Publicado 2018

Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life‐Threatening Arrhythmias

por Spezzacatene, Anita, Sinagra, Gianfranco, Merlo, Marco, Barbati, Giulia, Graw, Sharon L., Brun, Francesca, Slavov, Dobromir, Di Lenarda, Andrea, Salcedo, Ernesto E., Towbin, Jeffrey A., Saffitz, Jeffrey E., Marcus, Frank I., Zareba, Wojciech, Taylor, Matthew R. G., Mestroni, Luisa
Publicado 2015

FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

por Begay, Rene L., Tharp, Charles A., Martin, August, Graw, Sharon L., Sinagra, Gianfranco, Miani, Daniela, Sweet, Mary E., Slavov, Dobromir B., Stafford, Neil, Zeller, Molly J., Alnefaie, Rasha, Rowland, Teisha J., Brun, Francesca, Jones, Kenneth L., Gowan, Katherine, Mestroni, Luisa, Garrity, Deborah M., Taylor, Matthew R.G.
Publicado 2016

Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures

por Begay, Rene L., Graw, Sharon L., Sinagra, Gianfranco, Asimaki, Angeliki, Rowland, Teisha J., Slavov, Dobromir B., Gowan, Katherine, Jones, Kenneth L., Brun, Francesca, Merlo, Marco, Miani, Daniela, Sweet, Mary, Devaraj, Kalpana, Wartchow, Eric P., Gigli, Marta, Puggia, Ilaria, Salcedo, Ernesto E., Garrity, Deborah M., Ambardekar, Amrut V., Buttrick, Peter, Reece, T. Brett, Bristow, Michael R., Saffitz, Jeffrey E., Mestroni, Luisa, Taylor, Matthew R.G.
Publicado 2018