MartinTristani-FirouziMD

PubMed

• Limited Relationship Between Echocardiographic Measures and Electrocardiographic Markers of Left Ventricular Size in Healthy Children.
  Mark E Alexander, Russell Gongwer, Felicia L Trachtenberg, L LuAnn Minich, John K Triedman, Jonathan R Kaltman, Richard J Czosek, Martin Tristani-Firouzi, Martin J LaP...> ;Pediatric Cardiology. 2024 Jun 1
• The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
  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, S...> ;Genome Medicine. 2024 Jan 16
• 1 citations
  Cardiovascular Disease Burden, Mortality, and Sudden Death Risk in Epilepsy: A UK Biobank Study.
  Ravi A Shah, C Anwar A Chahal, Shaheryar Ranjha, Ivan Limongelli, Mohammed Khanji, Fabrizio Ricci, Federica De Paoli, Susanna Zucca, Martin Tristani-Firouzi, Erik K St...> ;The Canadian Journal of Cardiology. 2024 Apr 1
• An Explainable Artificial Intelligence Approach for Discovering Social Determinants of Health and Risk Interactions for Stroke in Patients With Atrial Fibrillation.
  Raquel M Zimmerman, Edgar J Hernandez, W Scott Watkins, Nathan Blue, Martin Tristani-Firouzi, Mark Yandell, Benjamin A Steinberg> ;The American Journal of Cardiology. 2023 Aug 15
• 2 citations
  Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.
  Jason P Glotzbach, Heidi A Hanson, Joseph E Tonna, Joshua J Horns, Chelsea McCarty Allen, Angela P Presson, Claire L Griffin, Megan Zak, Vikas Sharma, Martin Tristani-...> ;Circulation. 2023 Aug 22
• 1 citations
  Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies.
  Emma Matthews, Jacqueline Palace, Sithara Ramdas, Valeria Sansone, Martin Tristani-Firouzi, Savine Vicart, Tracey Willis> ;Pediatric Neurology. 2023 Aug 1
• 1 citations
  Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
  Min Young Jang, Parth N Patel, Alexandre C Pereira, Jon A L Willcox, Alireza Haghighi, Angela C Tai, Kaoru Ito, Sarah U Morton, Joshua M Gorham, David M McKean, Steven...> ;Circulation. Genomic and Precision Medicine. 2023 Jun 1
• Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.
  Mengyao Yu, Matthew Aguirre, Meiwen Jia, Ketrin Gjoni, Aldo Cordova-Palomera, Chad Munger, Dulguun Amgalan, X Rosa Ma, Alexandre Pereira, Catherine Tcheandjieu, Christ...> ;Circulation. Genomic and Precision Medicine. 2023 Jun 1
• American Heart Association's Children's Strategically Focused Research Network Experience.
  Craig Sable, Jennifer S Li, Martin Tristani-Firouzi, Angela Fagerlin, Robert M Silver, Mark Yandel, H Joseph Yost, Andrea Beaton, James Dale, Marc Engel, David Watkins...> ;Journal of the American Heart Association. 2023 Apr 4
• 5 citations
  Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
  Rachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, Christine Miller, Rong Mao, Bailey Meibos, Pinar Bayrak-Toydemir, Tatiana Tvrdik, Lincoln D Nadauld, Steven B B...> ;Pediatric Research. 2022 Nov 1
• Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.
  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 Szu...> ;Nature Communications. 2022 Jun 20
• 15 citations
  Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.
  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 Szu...> ;Nature Communications. 2022 May 19
• 4 citations
  Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
  Willcox, J., Geiger, J., Morton, S., McKean, D., Quiat, D., Gorham, J., Tai, A., DePalma, S., Bernstein, D., Brueckner, M., Chung, W., Giardini, A., Goldmuntz, E., Kal...> ;American Journal of Human Genetics. 2022 May 5
• 7 citations
  Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.
  Morton, S., Pereira, A., Quiat, D., Richter, F., Kitaygorodsky, A., Hagen, J., Bernstein, D., Brueckner, M., Goldmuntz, E., Kim, R., Lifton, R., Porter, G., Tristani-F...> ;Circulation. Genomic and Precision Medicine. 2022 Apr 1
• 3 citations
  Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
  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,...> ;Molecular Genetics & Genomic Medicine. 2022 Apr 1
• 1 citations
  Family Screening After Sudden Death in a Population-Based Study of Children.
  Prince J Kannankeril, M Ben Shoemaker, Darlene Fountain, Dan M Roden, Mark Yandell, Martin Tristani-Firouzi, Susan P Etheridge, Gregory Webster, Alfred L George, Eliza...> ;Pediatrics. 2022 Apr 1
• 8 citations
  An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.
  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 Desh...> ;PLOS Digital Health. 2022 Jan 1
• 6 citations
  The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele
  Shannon Hateley, Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Joshua G. Schraiber, Shiya Song, Colin T. Maguire, Natalia S. Torres, Michael Riedel, Neil E. B...> ;Nature Communications. 2021 Nov 8
• 3 citations
  A Poisson binomial-based statistical testing framework for comorbidity discovery across electronic health record datasets
  Gordon Lemmon, Sergiusz Wesolowski, Alex Henrie, Martin Tristani-Firouzi, Mark Yandell> ;Nature Computational Science. 2021 Oct 1
• 32 citations
  Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.
  Andrew P. Landstrom, Jeffrey J. Kim, Bruce D. Gelb, Benjamin M. Helm, Prince J. Kannankeril, Christopher Semsarian, Amy C. Sturm, Martin Tristani-Firouzi, Stephanie M....> ;Circulation. Genomic and Precision Medicine. 2021 Aug 20
• 40 citations
  Effective variant filtering and expected candidate variant yield in studies of rare human disease
  Brent S. Pedersen, Joseph Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani-Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter B...> ;NPJ Genomic Medicine. 2021 Jul 15
• 2 citations
  Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.
  Fadi I Musfee, A. J. Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Bernice E. Morrow, Deanne Taylor, Martin Tristani-Firouzi, W. Scott Watkins, Mark Yandell, Laura E...> ;Genes. 2021 Apr 27
• 5 citations
  Expanding the phenotype of CACNA1C mutation disorders.
  Lindsey Gakenheimer-Smith, Lindsay Meyers, Derek Lundahl, Shaji C. Menon, T. Jared Bunch, Briana L. Sawyer, Martin Tristani-Firouzi, Susan P. Etheridge> ;Molecular Genetics & Genomic Medicine. 2021 Apr 1
• Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2
  Briana L. Sawyer, Martin Tristani-Firouzi, Layne E. Wells, Matteo Vatta, Susan P. Etheridge> ;Heartrhythm Case Reports. 2021 Feb 1
• 2 citations
  Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.
  Sabrina Malone Jenkins, Rachel Palmquist, Ashley L. Kapron, Carrie B. Torr, D. Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, Dav...> ;Journal of Clinical and Translational Science. 2021 Jan 1
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