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Tristani-Firouzi, Martin
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: TRA-WID, 2022, p.11536-11536
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Tristani-Firouzi, Martin
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: SOR-TRN, 2021, p.11506-11506
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ArticlesPeer ReviewedFull Text
Effective variant filtering and expected candidate variant yield in studies of rare human disease
Author / Creator:Pedersen, Brent S. ; Brown, Joe M. ; Dashnow, Harriet ; Wallace, Amelia D. ; Velinder, Matt ; Tristani-Firouzi, Martin ; Schiffman, Joshua D. ; Tvrdik, Tatiana ; Mao, Rong ; Best, D. Hunter ; Bayrak-Toydemir, Pinar ; Quinlan, Aaron R.
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2021-07, Vol.6 (1), p.60-60, Article 60
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Expanding the phenotype of CACNA1C mutation disorders
Author / Creator:Gakenheimer‐Smith, Lindsey ; Meyers, Lindsay ; Lundahl, Derek ; Menon, Shaji C. ; Bunch, T. Jared ; Sawyer, Briana L. ; Tristani‐Firouzi, Martin ; Etheridge, Susan P.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-06, Vol.9 (6), p.e1673-n/a
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Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia
Author / Creator:Nicholas, Thomas J. ; Al‐Sweel, Najla ; Farrell, Andrew ; Mao, Rong ; Bayrak‐Toydemir, Pinar ; Miller, Christine E. ; Bentley, Dawn ; Palmquist, Rachel ; Moore, Barry ; Hernandez, Edgar J. ; Cormier, Michael J. ; Fredrickson, Eric ; Noble, Katherine ; Rynearson, Shawn ; Holt, Carson ; Karren, Mary Anne ; Bonkowsky, Joshua L. ; Tristani‐Firouzi, Martin ; Yandell, Mark ; Marth, Gabor ; Quinlan, Aaron R. ; Brunelli, Luca ; Toydemir, Reha M. ; Shayota, Brian J. ; Carey, John C. ; Boyden, Steven E. ; Malone Jenkins, Sabrina
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1888-n/a
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ArticlesPeer ReviewedFull Text
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Author / Creator:Jin, Sheng Chih ; Homsy, Jason ; Zaidi, Samir ; Lu, Qiongshi ; Morton, Sarah ; DePalma, Steven R ; Zeng, Xue ; Qi, Hongjian ; Chang, Weni ; Sierant, Michael C ; Hung, Wei-Chien ; Haider, Shozeb ; Zhang, Junhui ; Knight, James ; Bjornson, Robert D ; Castaldi, Christopher ; Tikhonoa, Irina R ; Bilguvar, Kaya ; Mane, Shrikant M ; Sanders, Stephan J ; Mital, Seema ; Russell, Mark W ; Gaynor, J William ; Deanfield, John ; Giardini, Alessandro ; Porter, George A ; Srivastava, Deepak ; Lo, Cecelia W ; Shen, Yufeng ; Watkins, W Scott ; Yandell, Mark ; Yost, H Joseph ; Tristani-Firouzi, Martin ; Newburger, Jane W ; Roberts, Amy E ; Kim, Richard ; Zhao, Hongyu ; Kaltman, Jonathan R ; Goldmuntz, Elizabeth ; Chung, Wendy K ; Seidman, Jonathan G ; Gelb, Bruce D ; Seidman, Christine E ; Lifton, Richard P ; Brueckner, Martina
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-11, Vol.49 (11), p.1593-1601
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ArticlesPeer ReviewedFull Text
hERG potassium channels and cardiac arrhythmia
Author / Creator:Sanguinetti, Michael C. ; Tristani-Firouzi, Martin
Publisher:London: Nature Publishing Group UK
Journal title:Nature, 2006-03, Vol.440 (7083), p.463-469
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ArticlesPeer ReviewedFull Text
Kir 2.1 channelopathies: the Andersen–Tawil syndrome
Author / Creator:Tristani-Firouzi, Martin ; Etheridge, Susan P.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Pflügers Archiv, 2010-07, Vol.460 (2), p.289-294
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ArticlesPeer ReviewedFull Text
An Explainable Artificial Intelligence Approach for Discovering Social Determinants of Health and Risk Interactions for Stroke in Patients With Atrial Fibrillation
Author / Creator:Zimmerman, Raquel M. ; Hernandez, Edgar J. ; Watkins, W. Scott ; Blue, Nathan ; Tristani-Firouzi, Martin ; Yandell, Mark ; Steinberg, Benjamin A.
Publisher:United States: Elsevier Inc
Journal title:The American journal of cardiology, 2023-08, Vol.201, p.224-226
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ArticlesPeer ReviewedFull Text
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
Author / Creator:Sevim Bayrak, Cigdem ; Zhang, Peng ; Tristani-Firouzi, Martin ; Gelb, Bruce D ; Itan, Yuval
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2020-01, Vol.12 (1), p.9-9, Article 9
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Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment
Author / Creator:Balderas, Enrique ; Eberhardt, David R. ; Lee, Sandra ; Pleinis, John M. ; Sommakia, Salah ; Balynas, Anthony M. ; Yin, Xue ; Parker, Mitchell C. ; Maguire, Colin T. ; Cho, Scott ; Szulik, Marta W. ; Bakhtina, Anna ; Bia, Ryan D. ; Friederich, Marisa W. ; Locke, Timothy M. ; Van Hove, Johan L. K. ; Drakos, Stavros G. ; Sancak, Yasemin ; Tristani-Firouzi, Martin ; Franklin, Sarah ; Rodan, Aylin R. ; Chaudhuri, Dipayan
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-05, Vol.13 (1), p.2769-2769, Article 2769
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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Author / Creator:Watkins, W. Scott ; Hernandez, E. Javier ; Wesolowski, Sergiusz ; Bisgrove, Brent W. ; Sunderland, Ryan T. ; Lin, Edwin ; Lemmon, Gordon ; Demarest, Bradley L. ; Miller, Thomas A. ; Bernstein, Daniel ; Brueckner, Martina ; Chung, Wendy K. ; Gelb, Bruce D. ; Goldmuntz, Elizabeth ; Newburger, Jane W. ; Seidman, Christine E. ; Shen, Yufeng ; Yost, H. Joseph ; Yandell, Mark ; Tristani-Firouzi, Martin
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-10, Vol.10 (1), p.4722-12, Article 4722
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ArticlesPeer ReviewedFull Text
Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome
Author / Creator:Serrano, Maria de Los Angeles ; Demarest, Bradley L ; Tone-Pah-Hote, Tarlynn ; Tristani-Firouzi, Martin ; Yost, H Joseph
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2019-09, Vol.17 (9), p.e3000087
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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 clinica...
Author / Creator:Zimmerman, Raquel M ; Hernandez, Edgar J ; Yandell, Mark ; Tristani-Firouzi, Martin ; Silver, Robert M ; Grobman, William ; Haas, David ; Saade, George ; Steller, Jonathan ; Blue, Nathan R
Publisher:England: BioMed Central
Journal title:BMC pregnancy and childbirth, 2025-01, Vol.25 (1), p.80-14, Article 80
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Modeling effects of voltage dependent properties of the cardiac muscarinic receptor on human sinus node function
Author / Creator:Moss, Robin ; Sachse, Frank B ; Moreno-Galindo, Eloy G ; Navarro-Polanco, Ricardo A ; Tristani-Firouzi, Martin ; Seemann, Gunnar
Publisher:United States: Public Library of Science
Journal title:PLoS computational biology, 2018-10, Vol.14 (10), p.e1006438-e1006438
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The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele
Author / Creator:Hateley, Shannon ; Lopez-Izquierdo, Angelica ; Jou, Chuanchau J. ; Cho, Scott ; Schraiber, Joshua G. ; Song, Shiya ; Maguire, Colin T. ; Torres, Natalia ; Riedel, Michael ; Bowles, Neil E. ; Arrington, Cammon B. ; Kennedy, Brett J. ; Etheridge, Susan P. ; Lai, Shuping ; Pribble, Chase ; Meyers, Lindsay ; Lundahl, Derek ; Byrnes, Jake ; Granka, Julie M. ; Kauffman, Christopher A. ; Lemmon, Gordon ; Boyden, Steven ; Scott Watkins, W. ; Karren, Mary Anne ; Knight, Stacey ; Brent Muhlestein, J. ; Carlquist, John F. ; Anderson, Jeffrey L. ; Chahine, Kenneth G. ; Shah, Khushi U. ; Ball, Catherine A. ; Benjamin, Ivor J. ; Yandell, Mark ; Tristani-Firouzi, Martin
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-11, Vol.12 (1), p.6442-6442, Article 6442
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Lethal arrhythmias in Tbx3-deficient mice reveal extreme dosage sensitivity of cardiac conduction system function and homeostasis
Author / Creator:Frank, Deborah U. ; Carter, Kandis L. ; Thomas, Kirk R. ; Burr, R. Michael ; Bakker, Martijn L. ; Coetzee, William A. ; Tristani-Firouzi, Martin ; Bamshad, Michael J. ; Christoffels, Vincent M. ; Moon, Anne M.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-01, Vol.109 (3), p.665-666
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Zebrafish model for human long QT syndrome
Author / Creator:Arnaout, Rima ; Ferrer, Tania ; Huisken, Jan ; Spitzer, Kenneth ; Stainier, Didier Y.R ; Tristani-Firouzi, Martin ; Chi, Neil C
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-07, Vol.104 (27), p.11316-11321
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Genetic and physiologic dissection of the vertebrate cardiac conduction system
Author / Creator:Chi, Neil C ; Shaw, Robin M ; Jungblut, Benno ; Huisken, Jan ; Ferrer, Tania ; Arnaout, Rima ; Scott, Ian ; Beis, Dimitris ; Xiao, Tong ; Baier, Herwig ; Jan, Lily Y ; Tristani-Firouzi, Martin ; Stainier, Didier Y R
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2008-05, Vol.6 (5), p.e109-e109
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ArticlesPeer ReviewedFull Text
Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment
Author / Creator:Balderas, Enrique ; Eberhardt, David R. ; Lee, Sandra ; Pleinis, John M. ; Sommakia, Salah ; Balynas, Anthony M. ; Yin, Xue ; Parker, Mitchell C. ; Maguire, Colin T. ; Cho, Scott ; Szulik, Marta W. ; Bakhtina, Anna ; Bia, Ryan D. ; Friederich, Marisa W. ; Locke, Timothy M. ; Van Hove, Johan L. K. ; Drakos, Stavros G. ; Sancak, Yasemin ; Tristani-Firouzi, Martin ; Franklin, Sarah ; Rodan, Aylin R. ; Chaudhuri, Dipayan
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-06, Vol.13 (1), p.3532-3532, Article 3532
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Tristani-Firouzi, Martin

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Tristani-Firouzi, Martin

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Effective variant filtering and expected candidate variant yield in studies of rare human disease

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Expanding the phenotype of CACNA1C mutation disorders

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Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

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hERG potassium channels and cardiac arrhythmia

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Kir 2.1 channelopathies: the Andersen–Tawil syndrome

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An Explainable Artificial Intelligence Approach for Discovering Social Determinants of Health and Risk Interactions for Stroke in Patients With Atrial Fibrillation

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De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

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Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

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Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

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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 clinica...

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Modeling effects of voltage dependent properties of the cardiac muscarinic receptor on human sinus node function

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

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Lethal arrhythmias in Tbx3-deficient mice reveal extreme dosage sensitivity of cardiac conduction system function and homeostasis

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Zebrafish model for human long QT syndrome

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Genetic and physiologic dissection of the vertebrate cardiac conduction system

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

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