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

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

Tamoxifen inhibition of kv7.2/kv7.3 channels.

by Tania Ferrer, Ivan Arael Aréchiga-Figueroa, Mark S Shapiro, Martin Tristani-Firouzi, José A Sanchez-Chapula
Published 2013-01-01

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

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

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.

by Maria de Los Angeles Serrano, Bradley L Demarest, Tarlynn Tone-Pah-Hote, Martin Tristani-Firouzi, H Joseph Yost
Published 2019-09-01

Expanding the phenotype of CACNA1C mutation disorders

by Lindsey Gakenheimer‐Smith, Lindsay Meyers, Derek Lundahl, Shaji C. Menon, T. Jared Bunch, Briana L. Sawyer, Martin Tristani‐Firouzi, Susan P. Etheridge
Published 2021-06-01

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

3-OST-7 regulates BMP-dependent cardiac contraction.

by Shiela C Samson, Tania Ferrer, Chuanchau J Jou, Frank B Sachse, Sunita S Shankaran, Robin M Shaw, Neil C Chi, Martin Tristani-Firouzi, H Joseph Yost
Published 2013-12-01

Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects

by Fadi I. Musfee, A. J. Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Bernice E. Morrow, Deanne M. Taylor, Martin Tristani-Firouzi, W. Scott Watkins, Mark Yandell, Laura E. Mitchell
Published 2021-04-01

Kv1.5 Open Channel Block by the Antiarrhythmic Drug Disopyramide: Molecular Determinants of Block

by Iván A. Aréchiga, Gabriel F. Barrio-Echavarria, Aldo A. Rodríguez-Menchaca, Eloy G. Moreno-Galindo, Niels Decher, Martin Tristani-Firouzi, José A. Sánchez-Chapula, Ricardo A. Navarro-Polanco
Published 2008-01-01

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

by 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
Published 2021-07-01

Genetic and physiologic dissection of the vertebrate cardiac conduction system.

by Neil C Chi, Robin M Shaw, Benno Jungblut, Jan Huisken, Tania Ferrer, Rima Arnaout, Ian Scott, Dimitris Beis, Tong Xiao, Herwig Baier, Lily Y Jan, Martin Tristani-Firouzi, Didier Y R Stainier
Published 2008-05-01

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

A Functional Assay for Sick Sinus Syndrome Genetic Variants

by Chuanchau J. Jou, Cammon B. Arrington, Spencer Barnett, Jiaxiang Shen, Scott Cho, Xiaoming Sheng, Patrick C. McCullagh, Neil E. Bowles, Chase M. Pribble, Elizabeth V. Saarel, Thomas A. Pilcher, Susan P. Etheridge, Martin Tristani-Firouzi
Published 2017-08-01

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

Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection

by Katie A. Mitzelfelt, Chris McDermott-Roe, Michael N. Grzybowski, Maribel Marquez, Chieh-Ti Kuo, Michael Riedel, Shuping Lai, Melinda J. Choi, Kurt D. Kolander, Daniel Helbling, David P. Dimmock, Michele A. Battle, Chuanchau J. Jou, Martin Tristani-Firouzi, James W. Verbsky, Ivor J. Benjamin, Aron M. Geurts
Published 2017-03-01

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

by W. Scott Watkins, E. Javier Hernandez, Sergiusz Wesolowski, Brent W. Bisgrove, Ryan T. Sunderland, Edwin Lin, Gordon Lemmon, Bradley L. Demarest, Thomas A. Miller, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Christine E. Seidman, Yufeng Shen, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi
Published 2019-10-01

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

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