Loss of dysferlin or myoferlin results in differential defects in excitation–contraction coupling in mouse skeletal muscle
Barefield, David Y., Sell, Jordan J., Tahtah, Ibrahim, Kearns, Samuel D., McNally, Elizabeth M., Demonbreun, Alexis R.
Published in Scientific reports (05.08.2021)
Published in Scientific reports (05.08.2021)
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
Puckelwartz, Megan J, Pesce, Lorenzo L, Hernandez, Edgar J, Webster, Gregory, Dellefave-Castillo, Lisa M, Russell, Mark W, Geisler, Sarah S, Kearns, Samuel D, Karthik, Felix, Etheridge, Susan P, Monroe, Tanner O, Pottinger, Tess D, Kannankeril, Prince J, Shoemaker, M Benjamin, Fountain, Darlene, Roden, Dan M, Faulkner, Meghan, MacLeod, Heather M, Burns, Kristin M, Yandell, Mark, Tristani-Firouzi, Martin, George, Jr, Alfred L, McNally, Elizabeth M
Published in Genome medicine (16.01.2024)
Published in Genome medicine (16.01.2024)
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Genomic Autopsy of Sudden Deaths in Young Individuals
Webster, Gregory, Puckelwartz, Megan J, Pesce, Lorenzo L, Dellefave-Castillo, Lisa M, Vanoye, Carlos G, Potet, Franck, Page, Patrick, Kearns, Samuel D, Pottinger, Tess, White, Steven, Arunkumar, Ponni, Olson, Rachael, Kofman, Amber, Ibrahim, Nora, Ing, Alexander, Brew, Casey, Yap, Kai Lee, Kadri, Sabah, George, Jr, Alfred L, McNally, Elizabeth M
Published in JAMA cardiology (01.11.2021)
Published in JAMA cardiology (01.11.2021)
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Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
Puckelwartz, Megan J, Pesce, Lorenzo L, Dellefave-Castillo, Lisa M, Wheeler, Matthew T, Pottinger, Tess D, Robinson, Avery C, Kearns, Samuel D, Gacita, Anthony M, Schoppen, Zachary J, Pan, Wenyu, Kim, Gene, Wilcox, Jane E, Anderson, Allen S, Ashley, Euan A, Day, Sharlene M, Cappola, Thomas, Dorn, 2nd, Gerald W, McNally, Elizabeth M
Published in Journal of the American Heart Association (06.04.2021)
Published in Journal of the American Heart Association (06.04.2021)
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Opposing effects of genetic variation in MTCH2 for obesity versus heart failure
Fischer, Julie A, Monroe, Tanner O, Pesce, Lorenzo L, Sawicki, Konrad T, Quattrocelli, Mattia, Bauer, Rosemary, Kearns, Samuel D, Wolf, Matthew J, Puckelwartz, Megan J, McNally, Elizabeth M
Published in Human molecular genetics (01.01.2023)
Published in Human molecular genetics (01.01.2023)
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Abstract 16066: Genomic Autopsy of 103 Sudden Deaths in the Young Reveals the Importance of Cardiomyopathy Genes and Non-Mendelian Risk
Webster, Gregory, Puckelwartz, Megan, Pesce, Lorenzo, Lisa, Dellefave-Castillo, Vanoye, Carlos, Page, Patrick, Kearns, Samuel D, Pottinger, Tess, White, Steven M, Arunkumar, Ponni, Olson, Rachael, Kofman, Amber, Ibrahim, Nora, Ing, Alexander, Brew, Casey, Yap, Kai Lee, Kadri, Sabah, George, Alfred L, McNally, Elizabeth M
Published in Circulation (New York, N.Y.) (17.11.2020)
Published in Circulation (New York, N.Y.) (17.11.2020)
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Journal Article
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
Puckelwartz, Megan J, Pesce, Lorenzo L, Hernandez, Edgar J, Webster, Gregory, Dellefave-Castillo, Lisa M, Russell, Mark W, Geisler, Sarah S, Kearns, Samuel D, Etheridge, Felix K, Etheridge, Susan P, Monroe, Tanner O, Pottinger, Tess D, Kannankeril, Prince J, Shoemaker, M Benjamin, Fountain, Darlene, Roden, Dan M, MacLeod, Heather, Burns, Kristin M, Yandell, Mark, Tristani-Firouzi, Martin, George, Alfred L, McNally, Elizabeth M
Published in medRxiv : the preprint server for health sciences (29.03.2023)
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Published in medRxiv : the preprint server for health sciences (29.03.2023)
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