Zobrazeno 1 - 10
of 188
pro vyhledávání: '"Ray E, Hershberger"'
Autor:
Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in
Externí odkaz:
https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160
Autor:
Elizabeth S. Jordan, Phoenix L. Grover, Jay Lin, Carl A. Starkey, Elizabeth A. Finley, Hanyu Ni, Ray E. Hershberger
Publikováno v:
American Heart Journal Plus, Vol 38, Iss , Pp 100356- (2024)
Study objective: To develop a digital platform to conduct family-based, dilated cardiomyopathy (DCM) genetic research. Design: The DCM Project Portal, a direct-to-participant electronic recruitment, consent, and communication tool, was designed using
Externí odkaz:
https://doaj.org/article/0e33ddd05c864a8a9e6f373fc24e08d5
Autor:
Antonietta Franco, Jiajia Li, Daniel P Kelly, Ray E Hershberger, Ali J Marian, Renate M Lewis, Moshi Song, Xiawei Dang, Alina D Schmidt, Mary E Mathyer, John R Edwards, Cristina de Guzman Strong, Gerald W Dorn
Publikováno v:
eLife, Vol 12 (2023)
Cardiac muscle has the highest mitochondrial density of any human tissue, but mitochondrial dysfunction is not a recognized cause of isolated cardiomyopathy. Here, we determined that the rare mitofusin (MFN) 2 R400Q mutation is 15–20× over-represe
Externí odkaz:
https://doaj.org/article/c8163fadb630467b8faefb631505c99f
Publikováno v:
Clinical and Translational Science, Vol 14, Iss 2, Pp 550-557 (2021)
Precision medicine genetics study design requires large, diverse cohorts and thoughtful use of electronic technologies. Involving patients in research design may increase enrollment and engagement, thereby enabling a means to relevant patient outcome
Externí odkaz:
https://doaj.org/article/23d4386b58f44ed2bfb7911a2836a2c1
Autor:
Hanyu Ni, Elizabeth Jordan, Daniel D. Kinnamon, Jinwen Cao, Garrie J. Haas, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W.H. Wilson Tang, Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy V. Pamboukian, Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz, Stephen Pan, Javier Jimenez, Daniel P. Fishbein, Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge, Charles K. Moore, Gordon S. Huggins, Ray E. Hershberger
Publikováno v:
Journal of the American College of Cardiology. 81:2059-2071
Autor:
Michelle M. Kittleson, Frederick L. Ruberg, Amrut V. Ambardekar, Thomas H. Brannagan, Richard K. Cheng, John O. Clarke, Laura M. Dember, Janell Grazzini Frantz, Ray E. Hershberger, Mathew S. Maurer, Jose Nativi-Nicolau, Vaishali Sanchorawala, Farooq H. Sheikh
Publikováno v:
Journal of the American College of Cardiology. 81:1076-1126
Autor:
Calum A MacRae, Matthew RG Taylor, Luisa Mestroni, John Moses, Euan A Ashley, Matthew T Wheeler, Neal K Lakdawala, Ray E Hershberger, Victor Sandor, Michael E Saunders, Colleen Oliver, Patrice A Lee, Daniel P Judge
Publikováno v:
Future Cardiology. 19:55-63
What is this plain language summary about? This plain language summary describes the results of a study looking at the effects of a medicine called ARRY-371797 (also known as PF-07265803) in people with dilated cardiomyopathy (DCM for short) caused b
Autor:
Jason R. Cowan, Ray E. Hershberger
Publikováno v:
JACC: Basic to Translational Science. 8:419-421
Autor:
Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understan
Externí odkaz:
https://doaj.org/article/c9ff0cedae104cbf87a7dbbc61d9cf7f
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
Autor:
Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Pathogenic variants in TTN (OMIM 188840), encoding the largest human protein, are known to cause dilated cardiomyopathy and several forms of skeletal myopathy. The clinical interpretation of TTN variants is challenging, however, d
Externí odkaz:
https://doaj.org/article/c2a8fccffa844cc5856ba2efded07812