Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Edgar J Hernandez"'
Autor:
Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variatio
Externí odkaz:
https://doaj.org/article/754c31b062b14f8fb5738e1f18f62142
Autor:
Thomas A. Miller, Edgar J. Hernandez, J. William Gaynor, Mark W. Russell, Jane W. Newburger, Wendy Chung, Elizabeth Goldmuntz, James F. Cnota, Sinai C. Zyblewski, William T. Mahle, Victor Zak, Chitra Ravishankar, Jonathan R. Kaltman, Brian W. McCrindle, Shanelle Clarke, Jodie K. Votava-Smith, Eric M. Graham, Mike Seed, Nancy Rudd, Daniel Bernstein, Teresa M. Lee, Mark Yandell, Martin Tristani-Firouzi
Publikováno v:
Communications Medicine, Vol 3, Iss 1, Pp 1-9 (2023)
Abstract Background Recent large-scale sequencing efforts have shed light on the genetic contribution to the etiology of congenital heart defects (CHD); however, the relative impact of genetics on clinical outcomes remains less understood. Outcomes a
Externí odkaz:
https://doaj.org/article/c560dc3733ce40c0907a0447f485a366
Autor:
Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) of
Externí odkaz:
https://doaj.org/article/1827760dc59544598719c7df6f5aa0f2
Autor:
Sergiusz Wesołowski, Gordon Lemmon, Edgar J Hernandez, Alex Henrie, Thomas A Miller, Derek Weyhrauch, Michael D Puchalski, Bruce E Bray, Rashmee U Shah, Vikrant G Deshmukh, Rebecca Delaney, H Joseph Yostl, Karen Eilbeck, Martin Tristani-Firouzi, Mark Yandell
Publikováno v:
PLOS Digital Health, Vol 1, Iss 1, p e0000004 (2022)
Understanding the conditionally-dependent clinical variables that drive cardiovascular health outcomes is a major challenge for precision medicine. Here, we deploy a recently developed massively scalable comorbidity discovery method called Poisson Bi
Externí odkaz:
https://doaj.org/article/d574d208e64a4840aedb92e49088da85
Autor:
Robert B. Srygley, Robert Dudley, Edgar J. Hernandez, Franz Kainz, Andre J. Riveros, Charlie P. Ellington
Publikováno v:
Insects, Vol 14, Iss 2, p 112 (2023)
Although theoretical work on optimal migration has been largely restricted to birds, relevant free-flight data are now becoming available for migratory insects. Here we report, for the first time in passion-vine butterflies, that Heliconius sara migr
Externí odkaz:
https://doaj.org/article/9fb1e8f555fd43d481a013cecffdad84
Autor:
Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix K Etheridge, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Heather MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
Publikováno v:
medRxiv
BackgroundSudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f4ded27efef0884af4112da59a6363
https://doi.org/10.1101/2023.03.27.23287711
https://doi.org/10.1101/2023.03.27.23287711
Autor:
Raquel M. Zimmerman, Edgar J. Hernandez, W. Scott Watkins, Nathan Blue, Martin Tristani-Firouzi, Mark Yandell, Benjamin A. Steinberg
Atrial fibrillation (AF) leads to significant morbidity and mortality, which is primarily related to stroke despite effective stroke prevention therapies. There remains a critical need for personalized, socially aware, equitable stroke risk predictio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da9906a5fa67ba36fa2eb8c8a3f1b8b9
https://doi.org/10.1101/2023.02.27.23286470
https://doi.org/10.1101/2023.02.27.23286470
Autor:
Thomas A. Miller, Edgar J. Hernandez, J. William Gaynor, Mark W. Russell, Jane W. Newburger, Wendy Chung, Elizabeth Goldmuntz, James F. Cnota, Sinai C. Zyblewski, William T. Mahle, Victor Zak, Chitra Ravishankar, Jonathan R. Kaltman, Brian W. McCrindle, Shanelle Clarke, Jodie K. Votava-Smith, Eric M. Graham, Mike Seed, Nancy Rudd, Daniel Bernstein, Teresa M. Lee, Mark Yandell, Martin Tristani-Firouzi
Recent large-scale sequencing efforts have shed light on the genetic contribution to the etiology of congenital heart defects (CHD); however, the relative impact of genetics on clinical outcomes remains less understood. Outcomes analyses using geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f025940b2b98459e3b9c8a01b7a93f5
https://doi.org/10.1101/2022.10.01.22280594
https://doi.org/10.1101/2022.10.01.22280594
Autor:
Chunyan Hu, Katherine Beebe, Edgar J. Hernandez, Jose M. Lazaro-Guevara, Monica P. Revelo, Yufeng Huang, J. Alan Maschek, James E. Cox, Donald E. Kohan
Publikováno v:
Am J Physiol Renal Physiol
Ift88 gene mutations cause primary cilia loss and polycystic kidney disease (PKD) in mice. Nephron intraflagellar transport protein 88 (Ift88) knockout (KO) at 2 mo postnatal does not affect renal histology at 4 mo postnatal and causes PKD only in ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bea3ac82a78f422fdd6765e449fc1a
https://europepmc.org/articles/PMC8782669/
https://europepmc.org/articles/PMC8782669/
Autor:
Srygley, Robert B.1,2 (AUTHOR) robert.srygley@usda.gov, Dudley, Robert1,3 (AUTHOR), Hernandez, Edgar J.4 (AUTHOR), Kainz, Franz5 (AUTHOR), Riveros, Andre J.6 (AUTHOR), Ellington, Charlie P.7 (AUTHOR)
Publikováno v:
Insects (2075-4450). Feb2023, Vol. 14 Issue 2, p112. 12p.