Author details

Full Name

Martin Tristani-Firouzi

Affiliation

ORCID

Career Start Year

1996

Papers

113

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37165897	Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.	Circ Genom Precis Med	2023
37758840	Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease.	Commun Med (Lond)	2023
38013064	Cardiovascular Disease Burden, Mortality and Sudden Death Risk in Epilepsy -- a UK Biobank study.		2023
37034657	The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.	medRxiv	2023
36974754	American Heart Association's Children's Strategically Focused Research Network Experience.	J Am Heart Assoc	2023
37385178	An Explainable Artificial Intelligence Approach for Discovering Social Determinants of Health and Risk Interactions for Stroke in Patients With Atrial Fibrillation.	Am J Cardiol	2023
37317837	Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.	Circulation	2023
37315339	Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies.		2023
35284934	Family Screening After Sudden Death in a Population-Based Study of Children.	Pediatrics	2022
35397206	Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.	Am J Hum Genet	2022
35589699	Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.	Nat Commun	2022
35373216	An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.	PLOS Digit Health	2022
35725853	Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.	Nat Commun	2022
35119225	Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.	Mol Genet Genomic Med	2022
35115709	Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.	Pediatric Research	2022
35130025	Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.	Circ Genom Precis Med	2022
34412507	Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.	Circ Genom Precis Med	2021
33797204	Expanding the phenotype of CACNA1C mutation disorders.	Mol Genet Genomic Med	2021
33665105	Maternal mosaicism in long QT syndrome due to a pathogenic variant in .	HeartRhythm Case Reports	2021
33925651	Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.	Genes (Basel)	2021
35252879	A Poisson binomial-based statistical testing framework for comorbidity discovery across electronic health record datasets.	Nat Comput Sci	2021
34849253	Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.	J Clin Transl Sci	2021
34750360	The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.	Nat Commun	2021
33054971	<i>GATA6</i> mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.	Elife	2020
32368696	Systems Analysis Implicates WAVE2Â Complex in the Pathogenesis ofÂ Developmental Left-Sided ObstructiveÂ Heart Defects.	JACC Basic Transl Sci	2020
31941532	De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.	Genome Med	2020
32272111	Voltage-induced structural modifications on M2 muscarinic receptor and their functional implications when interacting with the superagonist iperoxo.	Biochemical Pharmacology	2020
32601476	Genomic analyses implicate noncoding de novo variants in congenital heart disease.	Nat Genet	2020
32812804	De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.	Circ Genom Precis Med	2020
33079591	Development of a Portable Tool to Identify Patients With Atrial Fibrillation Using Clinical Notes From the Electronic Medical Record.	Circ Cardiovasc Qual Outcomes	2020
33216750	Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.	PLoS Genet	2020
31479440	Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.	PLoS Biology	2019
31298559	DNA methylation reprograms cardiac metabolic gene expression in end-stage human heart failure.	American Journal of Physiology - Heart and Circulatory Physiology	2019
29412518	Atrium-specific ion channels in the zebrafish-A role of I in atrial repolarization.	Acta Physiologica	2018
29930156	Electrocardiograms in Healthy North American Children in the Digital Age.	Circ Arrhythm Electrophysiol	2018
30303952	Modeling effects of voltage dependent properties of the cardiac muscarinic receptor on human sinus node function.	PLoS Computational Biology	2018
30155776	The voltage-sensitive cardiac M muscarinic receptor modulates the inward rectification of the G protein-coupled, ACh-gated K current.	Pflugers Archiv European Journal of Physiology	2018
29621539	Molecular determinants of Kv7.1/KCNE1 channel inhibition by amitriptyline.	Biochemical Pharmacology	2018
29527824	Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.	Hum Mutat	2018
28238794	Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting withÂ Selection.	Stem Cell Reports	2017
28734628	Adrenergic receptor genotypes influence postoperative outcomes in infants in the Single-Ventricle Reconstruction Trial.	J Thorac Cardiovasc Surg	2017
28991257	Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.	Nat Genet	2017
28678442	CRISPR/Cas9-Directed Gene Editing for the Generation of Loss-of-Function Mutants in High-Throughput Zebrafish F Screens.	Current Protocols in Molecular Biology	2017
28803248	A Functional Assay for Sick Sinus Syndrome Genetic Variants.	Cellular Physiology and Biochemistry	2017
28073805	Sheet-Like Remodeling of the Transverse Tubular System in Human Heart Failure Impairs Excitation-Contraction Coupling and Functional Recovery by Mechanical Unloading.	Circulation	2017
27247338	Pharmacological Conversion of a Cardiac Inward Rectifier into an Outward Rectifier Potassium Channel.	Molecular Pharmacology	2016
27023349	The agonist-specific voltage dependence of M2 muscarinic receptors modulates the deactivation of the acetylcholine-gated K(+) current (I KACh).	Pflugers Archiv European Journal of Physiology	2016
26284702	Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.	Am J Med Genet A	2015
26355713	Revisiting the challenges of universal screening for long QT syndrome.	Journal of Electrocardiology	2015
25068127	Functional and pharmacological analysis of cardiomyocytes differentiated from human peripheral blood mononuclear-derived pluripotent stem cells.	Stem Cell Reports	2014