Zobrazeno 1 - 10
of 183
pro vyhledávání: '"Martin Tristani-firouzi"'
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:
Craig Sable, Jennifer S. Li, Martin Tristani‐Firouzi, Angela Fagerlin, Robert M. Silver, Mark Yandel, H. Joseph Yost, Andrea Beaton, James Dale, Mark Emmanuel Engel, David Watkins, Christopher Spurney, Asheley C. Skinner, Sarah C. Armstrong, Svati H. Shah, Norrina Allen, Matthew Davis, Lifang Hou, Linda Van Horn, Darwin Labarthe, Donald Lloyd‐Jones, Bradley Marino
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 7 (2023)
The American Heart Association's Strategically Focused Children's Research Network started in July 2017 with 4 unique programs at Children's National Hospital in Washington, DC; Duke University in Durham, North Carolina; University of Utah in Salt La
Externí odkaz:
https://doaj.org/article/a1c23aa891184b32b4c7b9d4ca6b6793
Autor:
Enrique Balderas, David R. Eberhardt, Sandra Lee, John M. Pleinis, Salah Sommakia, Anthony M. Balynas, Xue Yin, Mitchell C. Parker, Colin T. Maguire, Scott Cho, Marta W. Szulik, Anna Bakhtina, Ryan D. Bia, Marisa W. Friederich, Timothy M. Locke, Johan L. K. Van Hove, Stavros G. Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin R. Rodan, Dipayan Chaudhuri
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Mitochondrial complex I deficiency is frequent in congenital, neurologic and cardiovascular disease. Here the authors demonstrate that Complex I stimulates the turnover of a mitochondrial calcium channel, which becomes stabilized during Complex I def
Externí odkaz:
https://doaj.org/article/c2ef9f77a9ef4d22aad9d8b4d27239a7
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100154- (2023)
Externí odkaz:
https://doaj.org/article/041aaa7f0aba405aa95ebd7a85914970
P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
Autor:
Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100271- (2023)
Externí odkaz:
https://doaj.org/article/5e1d6bdeb37c4149a303e6eb6e29d24b
Autor:
Barry Moore, Thomas Nicholas, Rong Mao, Brian Shayota, Steven Boyden, Chelsea Solorzano, Rachel Palmquist, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Eric Fredrickson, Kelsey Nicholson, David Pattison, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Betsy Ostrander, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky, Sabrina Malone-Jenkins
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100563- (2023)
Externí odkaz:
https://doaj.org/article/351ab484383e498d93fb967bf13b3585
Autor:
Shannon Hateley, Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Joshua G. Schraiber, Shiya Song, Colin T. Maguire, Natalia Torres, Michael Riedel, Neil E. Bowles, Cammon B. Arrington, Brett J. Kennedy, Susan P. Etheridge, Shuping Lai, Chase Pribble, Lindsay Meyers, Derek Lundahl, Jake Byrnes, Julie M. Granka, Christopher A. Kauffman, Gordon Lemmon, Steven Boyden, W. Scott Watkins, Mary Anne Karren, Stacey Knight, J. Brent Muhlestein, John F. Carlquist, Jeffrey L. Anderson, Kenneth G. Chahine, Khushi U. Shah, Catherine A. Ball, Ivor J. Benjamin, Mark Yandell, Martin Tristani-Firouzi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Many rare high-impact variants have been associated with disease, but the origins and functional impact are not always explored. Here, the authors trace the ancestry of a rare high impact atrial fibrillation allele in KCNQ1, and use iPSC-derived card
Externí odkaz:
https://doaj.org/article/fc7dba9c47974f5aa229e04e2b3a9d14
Autor:
Brent S. Pedersen, Joe M. Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani-Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pinar Bayrak-Toydemir, Aaron R. Quinlan
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-8 (2021)
Abstract In studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and software used to prioritize high-confidence v
Externí odkaz:
https://doaj.org/article/709f6f141917434d9d3529666fde6ab7
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