Showing 1 - 18 results of 18 for search 'Martin Tristani‐Firouzi', query time: 0.06s Refine Results
  1. 1
    P125: Whole-genome sequencing in the NICU: Improving healthcare through precision medicine

    P125: Whole-genome sequencing in the NICU: Improving healthcare through precision medicine by Danielle Bonser, Martin Tristani-Firouzi, Rachel Palmquist, Sabrina Malone-Jenkins

    Published 2023-01-01
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  2. 2
    De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

    De novo variants in exomes of congenital heart disease patients identify risk genes and pathways by Cigdem Sevim Bayrak, Peng Zhang, Martin Tristani-Firouzi, Bruce D. Gelb, Yuval Itan

    Published 2020-01-01
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  3. 3
    The application of root mean square electrocardiography (RMS ECG) for the detection of acquired and congenital long QT syndrome.

    The application of root mean square electrocardiography (RMS ECG) for the detection of acquired and congenital long QT syndrome. by Robert L Lux, Christopher Todd Sower, Nancy Allen, Susan P Etheridge, Martin Tristani-Firouzi, Elizabeth V Saarel

    Published 2014-01-01
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  4. 4
    Modeling effects of voltage dependent properties of the cardiac muscarinic receptor on human sinus node function.

    Modeling effects of voltage dependent properties of the cardiac muscarinic receptor on human sinus node function. by Robin Moss, Frank B Sachse, Eloy G Moreno-Galindo, Ricardo A Navarro-Polanco, Martin Tristani-Firouzi, Gunnar Seemann

    Published 2018-10-01
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  5. 5
    Functional and Pharmacological Analysis of Cardiomyocytes Differentiated from Human Peripheral Blood Mononuclear-Derived Pluripotent Stem Cells

    Functional and Pharmacological Analysis of Cardiomyocytes Differentiated from Human Peripheral Blood Mononuclear-Derived Pluripotent Stem Cells by Michael Riedel, Chuanchau J. Jou, Shuping Lai, Robert L. Lux, Alonso P. Moreno, Kenneth W. Spitzer, Elizabeth Christians, Martin Tristani-Firouzi, Ivor J. Benjamin

    Published 2014-07-01
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  6. 6
    AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecognized high risk clinical scenarios

    AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecogniz... by Raquel M. Zimmerman, Edgar J. Hernandez, Mark Yandell, Martin Tristani-Firouzi, Robert M. Silver, William Grobman, David Haas, George Saade, Jonathan Steller, Nathan R. Blue

    Published 2025-01-01
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  7. 7
    Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program

    Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program by Sabrina Malone Jenkins, Rachel Palmquist, Ashley L. Kapron, Carrie Torr, D. Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, David Dimmock, Brian Watts, Jeffrey R. Botkin, Ann Johnson, Joshua L. Bonkowsky

    Published 2021-01-01
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  8. 8
    An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.

    An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records. by 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

    Published 2022-01-01
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  9. 9
    American Heart Association's Children's Strategically Focused Research Network Experience

    American Heart Association's Children's Strategically Focused Research Network Experience by 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

    Published 2023-04-01
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  10. 10
    Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

    Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment by 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

    Published 2022-06-01
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  11. 11
    Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

    Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment by 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

    Published 2022-05-01
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  12. 12
    Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact

    Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact by Enrique Mondragon-Estrada, Jane W. Newburger, Steven R. DePalma, Martina Brueckner, John Cleveland, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Donald J. Hagler, Jr., Hao Huang, Patrick McQuillen, Thomas A. Miller, Ashok Panigrahy, George A. Porter, Jr., Amy E. Roberts, Caitlin K. Rollins, Mark W. Russell, Martin Tristani-Firouzi, P. Ellen Grant, Kiho Im, Sarah U. Morton

    Published 2025-02-01
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  13. 13
    Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease

    Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease by 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

    Published 2023-09-01
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  14. 14
    The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

    The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young by 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

    Published 2024-01-01
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  15. 15
    P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2

    P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 by 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

    Published 2023-01-01
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  16. 16
    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care

    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care by 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

    Published 2023-01-01
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  17. 17
    GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

    GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm by Arun Sharma, Lauren K Wasson, Jon AL Willcox, Sarah U Morton, Joshua M Gorham, Daniel M DeLaughter, Meraj Neyazi, Manuel Schmid, Radhika Agarwal, Min Young Jang, Christopher N Toepfer, Tarsha Ward, Yuri Kim, Alexandre C Pereira, Steven R DePalma, Angela Tai, Seongwon Kim, David Conner, Daniel Bernstein, Bruce D Gelb, Wendy K Chung, Elizabeth Goldmuntz, George Porter, Martin Tristani-Firouzi, Deepak Srivastava, Jonathan G Seidman, Christine E Seidman, Pediatric Cardiac Genomics Consortium

    Published 2020-10-01
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  18. 18
    The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele

    The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele by 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

    Published 2021-11-01
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