Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease

Authors: Kwon, Hyeokjin ^{a, b, d, e}, Son, Seungyeon ^c, Morton, Sarah U. ^{d, e}, Wypij, David ^{e, f, g}, Cleveland, John ^h, Rollins, Caitlin K ⁱ, Huang, Hao ^j, Goldmuntz, Elizabeth ^k, Panigrahy, Ashok ^l, Thomas, Nina H. ^{m, n}, Chung, Wendy K. ^o, Anagnostou, Evdokia ^p, Norris-Brilliant, Ami ^q, Gelb, Bruce D. ^r, McQuillen, Patrick ^s, Porter, George A., Jr. ^t, Tristani-Firouzi, Martin ^u, Russell, Mark W. ^v, Roberts, Amy E. ^{b, e, d, w}, Newburger, Jane W. ^{e, g}, Grant, P. Ellen ^{b, d, e, x}, Lee, Jong-Min ^{a, c, y, 1, ⁎}, Im, Kiho ^{b, d, e, 1, ⁎⁎}

Source: In Medical Image Analysis May 2025 102

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data

Authors: Kars, Meltem Ece ¹, Stein, David ², Stenson, Peter D. ³, Cooper, David N. ³, Chung, Wendy K. ⁴, Gruber, Peter J. ⁵, Seidman, Christine E. ^{6, 7, 8}, Shen, Yufeng ⁹, Tristani-Firouzi, Martin ¹⁰, Gelb, Bruce D. ^{2, 11, 12, 13, ∗}, Itan, Yuval ^{1, 2, 11, 13, ∗∗}

Source: In The American Journal of Human Genetics 6 March 2025 112(3):583-598

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact

Authors: Mondragon-Estrada, Enrique ^{1, 2}, Newburger, Jane W. ^{3, 4}, DePalma, Steven R. ⁵, Brueckner, Martina ⁶, Cleveland, John ⁷, Chung, Wendy K. ^{3, 8}, Gelb, Bruce D. ⁹, Goldmuntz, Elizabeth ¹⁰, Hagler, Donald J., Jr. ^{11, 12}, Huang, Hao ¹³, McQuillen, Patrick ¹⁴, Miller, Thomas A. ^{15, 16}, Panigrahy, Ashok ¹⁷, Porter, George A., Jr. ¹⁸, Roberts, Amy E. ^{3, 4, 19}, Rollins, Caitlin K. ^{20, 21}, Russell, Mark W. ²², Tristani-Firouzi, Martin ²³, Grant, P. Ellen ^{1, 2, 3, 24}, Im, Kiho ^{1, 2, 3, 25, ∗}, Morton, Sarah U. ^{1, 2, 3, 25, 26, ∗∗}

Source: In iScience 21 February 2025 28(2)

Pediatric and Familial Genetic Arrhythmia Syndromes–Evaluation of Prolonged QTc–Differential Diagnosis and what You Need to Know

Authors: Niu, Mary C., Etheridge, Susan P., Tristani-Firouzi, Martin, Miyake, Christina Y.

Source: In Cardiac Electrophysiology Clinics June 2024 16(2):195-202

Pediatric and Familial Genetic Arrhythmia Syndromes: Evaluation of Bidirectional Ventricular Tachycardia—Differential Diagnosis

Authors: Ebrahim, Mohammad A., Pham, Tam Dan, Niu, Mary C., Etheridge, Susan P., Tristani-Firouzi, Martin, Miyake, Christina Y.

Source: In Cardiac Electrophysiology Clinics June 2024 16(2):203-210

Cardiovascular Disease Burden, Mortality, and Sudden Death Risk in Epilepsy: A UK Biobank Study

Authors: Shah, Ravi A., Chahal, C. Anwar A., Ranjha, Shaheryar, Sharaf Dabbagh, Ghaith, Asatryan, Babken, Limongelli, Ivan, Khanji, Mohammed, Ricci, Fabrizio, De Paoli, Federica, Zucca, Susanna, Tristani-Firouzi, Martin, St. Louis, Erik K., So, Elson L., Somers, Virend K.

Source: In Canadian Journal of Cardiology April 2024 40(4):688-695

Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies

Authors: Matthews, Emma, Palace, Jacqueline, Ramdas, Sithara, Sansone, Valeria, Tristani-Firouzi, Martin, Vicart, Savine, Willis, Tracey

Source: In Pediatric Neurology August 2023 145:102-111

Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.

Authors: Ward, Tarsha, Morton, Sarah U., Venturini, Gabriela, Tai, Warren, Min Young Jang, Gorham, Joshua, Delaughter, Dan, Wasson, Lauren K., Khazal, Zahra, Homsy, Jason, Gelb, Bruce D., Chung, Wendy K., Bruneau, Benoit G., Brueckner, Martina, Tristani-Firouzi, Martin, DePalma, Steven R., Seidman, Christine, Seidman, J. G.

Source: Journal of the American Heart Association; 3/4/2025, Vol. 14 Issue 5, p1-14, 14p

A 2-state Markov model of IKACh based on a membrane voltage dependent muscarinic M2 receptor approach

Authors: Seemann, Gunnar, Moss, Robin, Kurz, Alexander K. E., Dossel, Olaf, Tristani-Firouzi, Martin, Sachse, Frank B

Source: 2012 Computing in Cardiology Computing in Cardiology (CinC), 2012. :241-244 Sep, 2012

Relation: 2012 Computing in Cardiology Conference (CinC)

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.

Authors: 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.

Source: BMC Pregnancy & Childbirth; 1/30/2025, Vol. 25 Issue 1, p1-14, 14p

Subject Terms: FETAL growth retardation, MEDICAL sciences, ARTIFICIAL intelligence, PERINATOLOGY, STILLBIRTH

Voltage-induced structural modifications on M2 muscarinic receptor and their functional implications when interacting with the superagonist iperoxo

Authors: López-Serrano, Ana Laura, De Jesús-Pérez, José J., Zamora-Cárdenas, Rodrigo, Ferrer, Tania, Rodríguez-Menchaca, Aldo A., Tristani-Firouzi, Martin, Moreno-Galindo, Eloy G., Navarro-Polanco, Ricardo A.

Source: In Biochemical Pharmacology July 2020 177

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Authors: Edwards, Jonathan J., Rouillard, Andrew D., Fernandez, Nicolas F., Wang, Zichen, Lachmann, Alexander, Shankaran, Sunita S., Bisgrove, Brent W., Demarest, Bradley, Turan, Nahid, Srivastava, Deepak, Bernstein, Daniel, Deanfield, John, Giardini, Alessandro, Porter, George, Kim, Richard, Roberts, Amy E., Newburger, Jane W., Goldmuntz, Elizabeth, Brueckner, Martina, Lifton, Richard P., Seidman, Christine E., Chung, Wendy K., Tristani-Firouzi, Martin, Yost, H. Joseph, Ma’ayan, Avi, Gelb, Bruce D.

Source: In JACC: Basic to Translational Science April 2020 5(4):376-386

Environmental Cues Facilitate Maturation and Patterning of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Authors: Cocaa, Enrique, Cho, Scott, Kauffman, Christopher, Cook, Alonzo D., Tristani-Firouzi, Martin, Torres, Natalia S.

Source: Cellular Physiology & Biochemistry (Cell Physiol Biochem Press GmbH & Co. KG); 2024, Vol. 58 Issue 5, p538-547, 10p

Subject Terms: INDUCED pluripotent stem cells, PLURIPOTENT stem cells, SOMATIC cells, HEART cells, EXTRACELLULAR matrix

Molecular determinants of Kv7.1/KCNE1 channel inhibition by amitriptyline

Authors: Villatoro-Gómez, Kathya, Pacheco-Rojas, David O., Moreno-Galindo, Eloy G., Navarro-Polanco, Ricardo A., Tristani-Firouzi, Martin, Gazgalis, Dimitris, Cui, Meng, Sánchez-Chapula, José A., Ferrer, Tania

Source: In Biochemical Pharmacology June 2018 152:264-271

Gating Currents Associated with Intramembrane Charge Displacement in HERG Potassium Channels

Authors: Piper, David R., Varghese, Anthony, Sanguinetti, Michael C., Tristani-Firouzi, Martin

Source: Proceedings of the National Academy of Sciences of the United States of America, 2003 Sep 01. 100(18), 10534-10539.

Access URL: https://www.jstor.org/stable/3147751

Adrenergic receptor genotypes influence postoperative outcomes in infants in the Single-Ventricle Reconstruction Trial

Authors: Ramroop, Ronand, Manase, George, Lu, Danny, Manase, Dorin, Chen, Shan, Kim, Richard, Lee, Teresa, Mahle, William T., McHugh, Kimberly, Mitchell, Mike, Tristani-Firouzi, Martin, Wechsler, Stephanie B., Wilder, Nicole S., Zak, Victor, Lafreniere-Roula, Myriam, Newburger, Jane W., Gaynor, J. William, Russell, Mark W., Mital, Seema

Source: In The Journal of Thoracic and Cardiovascular Surgery November 2017 154(5):1703-1710

The S4-S5 Linker Couples Voltage Sensing and Activation of Pacemaker Channels

Authors: Chen, Jun, Mitcheson, John S., Tristani-Firouzi, Martin, Lin, Monica, Sanguinetti, Michael C.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2001 Sep . 98(20), 11277-11282.

Access URL: https://www.jstor.org/stable/3056705

Limited Relationship Between Echocardiographic Measures and Electrocardiographic Markers of Left Ventricular Size in Healthy Children.

Authors: Alexander, Mark E., Gongwer, Russell, Trachtenberg, Felicia L., Minich, L. LuAnn, Triedman, John K., Kaltman, Jonathan R., Czosek, Richard J., Tristani-Firouzi, Martin, LaPage, Martin J., Tsao, Sabrina S., Radbill, Andrew E., DiLorenzo, Michael P., Kovach, Joshua R., Stephenson, Elizabeth A., Janson, Christopher, Mao, Chad, Salerno, Jack C., Clark, Bradley C., Mahgerefteh, Joseph, Pilcher, Thomas

Source: Pediatric Cardiology; Jun2024, Vol. 45 Issue 5, p1055-1063, 9p

Subject Terms: ECHOCARDIOGRAPHY, BODY surface area, PEARSON correlation (Statistics), LEFT ventricular hypertrophy

Pharmacological Conversion of a Cardiac Inward Rectifier into an Outward Rectifier Potassium Channel

Authors: Moreno-Galindo, Eloy G., Sanchez-Chapula, Jose A., Tristani-Firouzi, Martin ^*, Navarro-Polanco, Ricardo A. ^*

Source: In Molecular Pharmacology September 2016 90(3):334-340

Revisiting the challenges of universal screening for long QT syndrome

Authors: Tristani-Firouzi, Martin

Source: In Journal of Electrocardiology November-December 2015 48(6):1053-1057