Publications by authors named "Steven DePalma"

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Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.
Abhilash Suresh, Sarah U Morton, Daniel Quiat, Steven R DePalma, Joshua M Gorham

BMC Med Genomics· July 2025

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Modeling Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.
Tarsha Ward, Sarah U Morton, Gabriela Venturini, Warren Tai, Min Young Jang, Steven R DePalma

J Am Heart Assoc· March 2025

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Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.
Enrique Mondragon-Estrada, Jane W Newburger, Steven R DePalma, Martina Brueckner, John Cleveland

iScience· February 2025

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Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes.
David M McKean, Qi Zhang, Priyanka Narayan, Sarah U Morton, Viktoria Strohmenger, Steven R DePalma

J Clin Invest· June 2024

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Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing.
Kun Li, Daniel Quiat, Fei She, Yuanwei Liu, Rong He, Steven Robert DePalma

Genet Med Open· January 2024

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Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Yuri Kim, Oddný Brattberg Gunnarsdóttir, Anissa Viveiros, Daniel Reichart, Daniel Quiat, Steven R DePalma

Circ Genom Precis Med· October 2023

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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, Steven R DePalma

Circ Genom Precis Med· June 2023

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Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Daniel Quiat, Andrew T Timberlake, Justin J Curran, Michael L Cunningham, Barbara McDonough, Steven R DePalma

Genet Med· January 2023

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Pathogenesis of Cardiomyopathy Caused by Variants in , an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.
Radhika Agarwal, Hiroko Wakimoto, Joao A Paulo, Qi Zhang, Daniel Reichart, Steven R DePalma

Circulation· November 2022

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Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
Jon A L Willcox, Joshua T Geiger, Sarah U Morton, David McKean, Daniel Quiat, Steven DePalma

Am J Hum Genet· May 2022

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An ancient founder mutation located between and is responsible for increased microtia risk in Amerindigenous populations.
Daniel Quiat, Seong Won Kim, Qi Zhang, Sarah U Morton, Alexandre C Pereira, Steven R DePalma

Proc Natl Acad Sci U S A· May 2022

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Contribution of Noncanonical Splice Variants to Truncating Variant Cardiomyopathy.
Parth N Patel, Kaoru Ito, Jon A L Willcox, Alireza Haghighi, Min Young Jang, Steven R DePalma

Circ Genom Precis Med· October 2021

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Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation.
Radhika Agarwal, Joao A Paulo, Christopher N Toepfer, Jourdan K Ewoldt, Subramanian Sundaram, Steven R DePalma

Circ Res· September 2021

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Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Mutation.
Kenji Onoue, Hiroko Wakimoto, Jiangming Jiang, Michael Parfenov, Steven DePalma

Front Cardiovasc Med· June 2021

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Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.
Rahul Goli, Jian Li, Jeff Brandimarto, Lisa D Levine, Valerie Riis, Steven DePalma

Circulation· May 2021

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Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
Tarsha Ward, Warren Tai, Sarah Morton, Francis Impens, Petra Van Damme, Steven R DePalma

Circ Res· April 2021

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Discordant clinical features of identical hypertrophic cardiomyopathy twins.
Giuliana G Repetti, Yuri Kim, Alexandre C Pereira, Jodie Ingles, Mark W Russell, Steven R DePalma

Proc Natl Acad Sci U S A· March 2021

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Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Steven R DePalma

PLoS Genet· November 2020

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Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.
Akl C Fahed, Georges Nemer, Fadi F Bitar, Samir Arnaout, Antoine B Abchee, Steven R DePalma

Circ Genom Precis Med· October 2020

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mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Arun Sharma, Lauren K Wasson, Jon Al Willcox, Sarah U Morton, Joshua M Gorham, Steven R DePalma

Elife· October 2020

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Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Felix Richter, Sarah U Morton, Seong Won Kim, Alexander Kitaygorodsky, Lauren K Wasson, Steven R DePalma

Nat Genet· August 2020

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BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathy.
Andrew Antolic, Hiroko Wakimoto, Zhe Jiao, Joshua M Gorham, Steven R DePalma

JCI Insight· August 2020

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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Alexander Hsieh, Sarah U Morton, Jon A L Willcox, Joshua M Gorham, Angela C Tai, Steven DePalma

Genome Med· April 2020

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Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.
Pablo Garcia-Pavia, Yuri Kim, Maria Alejandra Restrepo-Cordoba, Ida G Lunde, Hiroko Wakimoto, Steven R DePalma

Circulation· July 2019

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A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Claire Horvat, Renee Johnson, Lien Lam, Jacob Munro, Francesco Mazzarotto, Steven R DePalma

Genet Med· January 2019

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