Transcriptomics and Beyond in Dilated Cardiomyopathy

por Cowan, Jason R., Hershberger, Ray E.
Publicado 2023

Reconsidering Association Testing Methods Using Single-Variant Test Statistics as Alternatives to Pooling Tests for Sequence Data with Rare Variants

por Kinnamon, Daniel D., Hershberger, Ray E., Martin, Eden R.
Publicado 2012

Attitudes of Dilated Cardiomyopathy Patients and Investigators Toward Genomic Study Enrollment, Consent Process, and Return of Genetic Results

por Blazek, Alisa D., Kinnamon, Daniel D., Jordan, Elizabeth, Ni, Hanyu, Hershberger, Ray E.
Publicado 2020

The DCM Project Portal: A direct-to-participant platform of The DCM Research Project

por Jordan, Elizabeth S., Grover, Phoenix L., Lin, Jay, Starkey, Carl A., Finley, Elizabeth A., Ni, Hanyu, Hershberger, Ray E.
Publicado 2023

Differences in Cardiac Mechanics among Genetically At-Risk First-Degree Relatives: The DCM Precision Medicine Study

por Wilcox, Jane E., Beussink-Nelson, Lauren, Cao, Jinwen, Kumar, Ritika, Jordan, Elizabeth, Ni, Hanyu, Shah, Sanjiv J., Hershberger, Ray E., Kinnamon, Daniel D.
Publicado 2023

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

por Roggenbuck, Jennifer, Rich, Kelly, Morales, Ana, Tan, Christopher A., Eck, Douglas, King, Wendy, Vatta, Matteo, Winder, Thomas, Elsheikh, Bakri, Hershberger, Ray E., Kissel, John T.
Publicado 2019

Dilated cardiomyopathy

por Schultheiss, Heinz-Peter, Fairweather, DeLisa, Caforio, Alida L. P., Escher, Felicitas, Hershberger, Ray E., Lipshultz, Steven E., Liu, Peter P., Matsumori, Akira, Mazzanti, Andrea, McMurray, John, Priori, Silvia G.
Publicado 2019

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

por Rich, Kelly A., Moscarello, Tia, Siskind, Carly, Brock, Guy, Tan, Christopher A., Vatta, Matteo, Winder, Thomas L., Elsheikh, Bakri, Vicini, Leah, Tucker, Brianna, Palettas, Marilly, Hershberger, Ray E., Kissel, John T., Morales, Ana, Roggenbuck, Jennifer
Publicado 2020

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy

por Franco, Antonietta, Li, Jiajia, Kelly, Daniel P, Hershberger, Ray E, Marian, Ali J, Lewis, Renate M, Song, Moshi, Dang, Xiawei, Schmidt, Alina D, Mathyer, Mary E, Edwards, John R, Strong, Cristina de Guzman, Dorn, Gerald W
Publicado 2023

Efficacy and Safety of ARRY-371797 in LMNA-Related Dilated Cardiomyopathy: A Phase 2 Study

por MacRae, Calum A., Taylor, Matthew R.G., Mestroni, Luisa, Moses, John, Ashley, Euan A., Wheeler, Matthew T., Lakdawala, Neal K., Hershberger, Ray E., Sandor, Victor, Saunders, Michael E., Oliver, Colleen, Lee, Patrice A., Judge, Daniel P.
Publicado 2022

Design and Implementation of a Randomized Controlled Trial of Genomic Counseling for Patients with Chronic Disease

por Sweet, Kevin, Gordon, Erynn S., Sturm, Amy C., Schmidlen, Tara J., Manickam, Kandamurugu, Toland, Amanda Ewart, Keller, Margaret A., Stack, Catharine B., García-España, J. Felipe, Bellafante, Mark, Tayal, Neeraj, Embi, Peter, Binkley, Philip, Hershberger, Ray E., Sadee, Wolfgang, Christman, Michael, Marsh, Clay
Publicado 2014

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

por Hosseini, S. Mohsen, Kim, Raymond, Udupa, Sharmila, Costain, Gregory, Jobling, Rebekah, Liston, Eriskay, Jamal, Seema M., Szybowska, Marta, Morel, Chantal F., Bowdin, Sarah, Garcia, John, Care, Melanie, Sturm, Amy C., Novelli, Valeria, Ackerman, Michael J., Ware, James S., Hershberger, Ray E., Wilde, Arthur A.M., Gollob, Michael H.
Publicado 2018

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

por Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A, Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E, Perez, Marco V, Sturm, Amy C, Ware, James S, Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A M, Gollob, Michael H
Publicado 2021

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

por James, Cynthia A., Jongbloed, Jan D.H., Hershberger, Ray E., Morales, Ana, Judge, Daniel P., Syrris, Petros, Pilichou, Kalliopi, Domingo, Argelia Medeiros, Murray, Brittney, Cadrin-Tourigny, Julia, Lekanne Deprez, Ronald, Celeghin, Rudy, Protonotarios, Alexandros, Asatryan, Babken, Brown, Emily, Jordan, Elizabeth, McGlaughon, Jennifer, Thaxton, Courtney, Kurtz, C. Lisa, van Tintelen, J. Peter
Publicado 2021

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

por Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.
Publicado 2018

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

por Ingles, Jodie, Goldstein, Jennifer, Thaxton, Courtney, Caleshu, Colleen, Corty, Edward W., Crowley, Stephanie B., Dougherty, Kristen, Harrison, Steven M., McGlaughon, Jennifer, Milko, Laura V., Morales, Ana, Seifert, Bryce A., Strande, Natasha, Thomson, Kate, Peter van Tintelen, J., Wallace, Kathleen, Walsh, Roddy, Wells, Quinn, Whiffin, Nicola, Witkowski, Leora, Semsarian, Christopher, Ware, James S., Hershberger, Ray E., Funke, Birgit
Publicado 2019

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

Effects of danicamtiv, a novel cardiac myosin activator, in heart failure with reduced ejection fraction: experimental data and clinical results from a phase 2a trial

por Voors, Adriaan A., Tamby, Jean‐François, Cleland, John G., Koren, Michael, Forgosh, Leslie B., Gupta, Dinesh, Lund, Lars H., Camacho, Albert, Karra, Ravi, Swart, Henk P., Pellicori, Pierpaolo, Wagner, Frank, Hershberger, Ray E., Prasad, Narayana, Anderson, Robert, Anto, Anu, Bell, Kaylyn, Edelberg, Jay M., Fang, Liang, Henze, Marcus, Kelly, Cynthia, Kurio, Gregory, Li, Wanying, Wells, Kate, Yang, Chun, Teichman, Sam L., del Rio, Carlos L., Solomon, Scott D.
Publicado 2020

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Ca...

por Morales, Ana, Ing, Alexander, Antolik, Christian, Austin-Tse, Christina, Baudhuin, Linnea M., Bronicki, Lucas, Cirino, Allison, Hawley, Megan H., Fietz, Michael, Garcia, John, Ho, Carolyn, Ingles, Jodie, Jarinova, Olga, Johnston, Tami, Kelly, Melissa A., Kurtz, C. Lisa, Lebo, Matt, Macaya, Daniela, Mahanta, Lisa, Maleszewski, Joseph, Manrai, Arjun K., Murray, Mitzi, Richard, Gabriele, Semsarian, Chris, Thomson, Kate L., Winder, Tom, Ware, James S., Hershberger, Ray E., Funke, Birgit H., Vatta, Matteo
Publicado 2021

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

por Jordan, Elizabeth, Peterson, Laiken, Ai, Tomohiko, Asatryan, Babken, Bronicki, Lucas, Brown, Emily, Celeghin, Rudy, Edwards, Matthew, Fan, Judy, Ingles, Jodie, James, Cynthia A., Jarinova, Olga, Johnson, Renee, Judge, Daniel P., Lahrouchi, Najim, Lekanne Deprez, Ronald H., Lumbers, R. Thomas, Mazzarotto, Francesco, Medeiros Domingo, Argelia, Miller, Rebecca L., Morales, Ana, Murray, Brittney, Peters, Stacey, Pilichou, Kalliopi, Protonotarios, Alexandros, Semsarian, Christopher, Shah, Palak, Syrris, Petros, Thaxton, Courtney, van Tintelen, J. Peter, Walsh, Roddy, Wang, Jessica, Ware, James, Hershberger, Ray E.
Publicado 2021