Author details

Full Name

Steven R DePalma

Affiliation

ORCID

Career Start Year

1990

Papers

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
36260083	Damaging variants in FOXI3 cause microtia and craniofacial microsomia.	Genet Med	2023
37767697	Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.	Circ Genom Precis Med	2023
36321451	Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i>, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.	Circulation	2022
35397206	Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.	Am J Hum Genet	2022
35584116	An ancient founder mutation located between <i>ROBO1</i> and <i>ROBO2</i> is responsible for increased microtia risk in Amerindigenous populations.	Proc Natl Acad Sci U S A	2022
34461741	Contribution of Noncanonical Splice Variants to <i>TTN</i> Truncating Variant Cardiomyopathy.	Circ Genom Precis Med	2021
33874732	Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.	Circulation	2021
33658374	Discordant clinical features of identical hypertrophic cardiomyopathy twins.	Proc Natl Acad Sci U S A	2021
33557580	Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.	Circ Res	2021
34250035	Cardiomyocyte Proliferative Capacity Is Restricted in Mice With <i>Lmna</i> Mutation.	Front Cardiovasc Med	2021
34405687	Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation.	Circ Res	2021
33054971	<i>GATA6</i> mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.	Elife	2020
32885985	Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.	Circ Genom Precis Med	2020
32601476	Genomic analyses implicate noncoding de novo variants in congenital heart disease.	Nat Genet	2020
33216750	Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.	PLoS Genet	2020
30987448	Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.	Circulation	2019
29892087	A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.	Genet Med	2019
29360822	ViroFind: A novel target-enrichment deep-sequencing platform reveals a complex JC virus population in the brain of PML patients.	PLoS One	2018
28679633	Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing.	Proc Natl Acad Sci U S A	2017
28991257	Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.	Nat Genet	2017
27670201	Loss of RNA expression and allele-specific expression associated with congenital heart disease.	Nat Commun	2016
27239561	Molecular profiling of dilated cardiomyopathy that progresses to heart failure.	JCI Insight	2016
27895300	THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.	Stroke	2016
26785492	De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.	Science	2015
25835197	CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.	Genet Med	2015
25581909	Using next-generation RNA sequencing to examine ischemic changes induced by cold blood cardioplegia on the human left ventricular myocardium transcriptome.	Anesthesiology	2015
25742962	NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.	Sci Rep	2015
25611685	Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.	Genet Med	2015
25078086	Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.	Circulation	2014
24379297	Increased burden of cardiovascular disease in carriers of APOL1 genetic variants.	Circ Res	2014
25205790	Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.	Circ Res	2014
24509080	5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.	J Clin Invest	2014
23665959	De novo mutations in histone-modifying genes in congenital heart disease.	Nature	2013
23775976	HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.	Hum Mutat	2013
22335739	Truncations of titin causing dilated cardiomyopathy.	N Engl J Med	2012
22891333	Spectrum of somatic mitochondrial mutations in five cancers.	Proc Natl Acad Sci U S A	2012
22958901	Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.	Am J Hum Genet	2012
21980348	Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery.	PLoS One	2011
21225638	Quantification of gene transcripts with deep sequencing analysis of gene expression (DSAGE) using 1 to 2 Âµg total RNA.	Curr Protoc Mol Biol	2011
20117437	Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.	J Am Coll Cardiol	2010
19810609	Locus for familial migrainous vertigo disease maps to chromosome 5q35.	Ann Otol Rhinol Laryngol	2009
19064780	Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13q.	Stroke	2009
19597493	De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.	Nat Genet	2009
16716207	Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses.	BMC Genet	2006
16651466	Novel locus for an inherited cardiomyopathy maps to chromosome 7.	Circulation	2006
15864348	A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.	J Clin Invest	2005
14673644	Localized aggressive periodontitis is linked to human chromosome 1q25.	Hum Genet	2004
12858563	Molecular epidemiology of hypertrophic cardiomyopathy.	Cold Spring Harb Symp Quant Biol	2002
11369996	A nonsense mutation in MSX1 causes Witkop syndrome.	Am J Hum Genet	2001