Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Thomas E. Callis"'
Autor:
Mary E. Moya‐Mendez, Chiagoziem Ogbonna, Jordan E. Ezekian, Michael B. Rosamilia, Lyndsey Prange, Caridad de la Uz, Jeffrey J. Kim, Taylor Howard, John Garcia, Robert Nussbaum, Rebecca Truty, Thomas E. Callis, Emily Funk, Matthew Heyes, Guy de Lisle Dear, Michael P. Carboni, Salim F. Idriss, Mohamad A. Mikati, Andrew P. Landstrom
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 17 (2021)
Background Pathogenic variation in the ATP1A3‐encoded sodium‐potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death in epilepsy, the pathop
Externí odkaz:
https://doaj.org/article/3b80305b960849069d5982056f4e303c
Autor:
Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally
Publikováno v:
JAMA cardiology. 7(9)
Genetic testing can guide management of both cardiomyopathies and arrhythmias, but cost, yield, and uncertain results can be barriers to its use. It is unknown whether combined disease testing can improve diagnostic yield and clinical utility for pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8aa530ec4e6eab22db073d2d586dd22
https://pubmed.ncbi.nlm.nih.gov/35947367
https://pubmed.ncbi.nlm.nih.gov/35947367
Autor:
Emily Funk, Michael Bradley Rosamilia, Thomas E. Callis, Andrew P. Landstrom, Matthew E. Heyes, Guy de L. Dear, John Garcia, Jeffrey J. Kim, Caridad M. de la Uz, Taylor S. Howard, Chiagoziem Ogbonna, Mary E. Moya-Mendez, Mohamad A. Mikati, Robert L. Nussbaum, Salim F. Idriss, Jordan E Ezekian, Rebecca Truty, Lyndsey Prange, Michael P. Carboni
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 17 (2021)
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 17 (2021)
Background Pathogenic variation in the ATP1A3 ‐encoded sodium‐potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death in epilepsy, the patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3343a141a90a15533fe09bb7a0b8bf5
http://europepmc.org/articles/PMC8649289
http://europepmc.org/articles/PMC8649289
Autor:
Amy C. Sturm, Sarah Garcia, Sienna Aguilar, Rebecca Truty, Eden Haverfield, Matteo Vatta, Robert L. Nussbaum, Ana Morales, Thomas E. Callis, Edward D. Esplin, Susan Rojahn, Daniel J. Rader
Publikováno v:
JAMA cardiology. 6(8)
Importance Familial hypercholesterolemia (FH) is the most common inherited cardiovascular disease and carries significant morbidity and mortality risks. Genetic testing can identify affected individuals, but some array-based assays screen only a smal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a91e045df5d828bd42c4f9d978186e42
https://pubmed.ncbi.nlm.nih.gov/34037679
https://pubmed.ncbi.nlm.nih.gov/34037679
Autor:
Matteo Vatta, Susan Rojahn, John Garcia, Thomas E. Callis, Swaroop Aradhya, Ana Morales, Robert L. Nussbaum, Kathryn E. Hatchell, Rebecca Truty
Publikováno v:
Circulation: Genomic and Precision Medicine. 14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2801a909b1114e1645fcc9be6b622aad
https://doi.org/10.1161/circgen.120.003206
https://doi.org/10.1161/circgen.120.003206
Autor:
Michael J. Ackerman, Krishna Pundi, David J. Tester, Jamie D. Kapplinger, Arthur A.M. Wilde, Hennie Bikker, Thomas E. Callis, Nicholas B. Larson
Publikováno v:
Circulation. Genomic and precision medicine, 11(2). Lippincott Williams and Wilkins Ltd.
Background: Pathogenic RYR2 variants account for ≈60% of clinically definite cases of catecholaminergic polymorphic ventricular tachycardia. However, the rate of rare benign RYR2 variants identified in the general population remains a challenge for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7182d00593d4bd17e554097e37edc87
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85050704284&origin=inward
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85050704284&origin=inward
Autor:
Carmen R. Valdivia, Thomas E. Callis, Jonathan C. Makielski, Arthur A.M. Wilde, Dan Ye, David J. Tester, John R. Giudicessi, Jamie D. Kapplinger, Michael J. Ackerman
Publikováno v:
Circulation. Cardiovascular genetics, 8(4), 582-595. Lippincott Williams and Wilkins
Background— A 2% to 5% background rate of rare SCN5A nonsynonymous single nucleotide variants (nsSNVs) among healthy individuals confounds clinical genetic testing. Therefore, the purpose of this study was to enhance interpretation of SCN5A nsSNVs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dedc1bc51dfa00b96e3a339f380c73d
https://doi.org/10.1161/circgenetics.114.000831
https://doi.org/10.1161/circgenetics.114.000831
Autor:
Andrew P. Landstrom, Benjamin A. Salisbury, J. Martijn Bos, Jamie D. Kapplinger, Michael J. Ackerman, Thomas E. Callis
Publikováno v:
Journal of Cardiovascular Translational Research. 7:347-361
Despite the significant progress that has been made in identifying disease-associated mutations, the utility of the hypertrophic cardiomyopathy (HCM) genetic test is limited by a lack of understanding of the background genetic variation inherent to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::113e41bfe857d0a3af6620ca101c5821
https://doi.org/10.1007/s12265-014-9542-z
https://doi.org/10.1007/s12265-014-9542-z
Autor:
Jamie D, Kapplinger, Krishna N, Pundi, Nicholas B, Larson, Thomas E, Callis, David J, Tester, Hennie, Bikker, Arthur A M, Wilde, Michael J, Ackerman
Publikováno v:
Circulation. Genomic and precision medicine. 11(2)
PathogenicFrequency and location comparisons were made forA total of 18.2% (218/1200) of patients referred for commercial testing hosted rareCurrent expert recommendations have resulted in increased use of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1bea2126bce4e705d86fbd4300cf3dc1
https://pubmed.ncbi.nlm.nih.gov/29752402
https://pubmed.ncbi.nlm.nih.gov/29752402
Autor:
Rosetta M. Chiavacci, Teri A. Manolio, David R. Crosslin, Joshua C. Denny, Suzette J. Bielinski, Kimberly F. Doheny, James D. Ralston, Deborah A. Nickerson, David J. Carey, Janet E. Olson, Sara L. Van Driest, Terrie Kitchner, John Connolly, Quinn S. Wells, Murray H. Brilliant, David Carrell, Adam S. Gordon, Stuart A. Scott, Sarah C. Stallings, Vivian Pan, Noura S. Abul-Husn, Daniela Macaya, Marylyn D. Ritchie, Jamie D. Kapplinger, Thomas E. Callis, John R. Wallace, Max M. He, Eric B. Larson, Erwin P. Bottinger, Michael J. Ackerman, M. Benjamin Shoemaker, Gail P. Jarvik, William S. Bush, Laura J. Rasmussen-Torvik, Hakon Hakonarson, Marc S. Williams, Maureen E. Smith, Dan M. Roden, Jerry H. Kim, Stephen D. Persell, Zi Ye, Rex L. Chisholm, Iftikhar J. Kullo, Rongling Li, Berta Almoguera
Importance Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes in unselected patient populations is not well established. Phenotype data from electron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47a9998e808a55fb81a1903bc8b039ef
https://europepmc.org/articles/PMC4758131/
https://europepmc.org/articles/PMC4758131/
