List of works - Steven R DePalma

16S ribosomal RNA sequence analysis for determination of phylogenetic relationship among methylotrophs

scientific article published on January 1, 1990

5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.

scientific article published on 10 February 2014

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

article

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

scientific article

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

scientific article published in April 2015

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

scientific article published on 9 October 2017

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

scientific article published on 13 July 2009

De novo mutations in histone-modifying genes in congenital heart disease.

scientific article

Discordant clinical features of identical hypertrophic cardiomyopathy twins

scientific article published on 3 March 2021

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

scientific article published on 29 April 2020

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

scientific article published on 18 August 2021

Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

scientific article published on 04 September 2020

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

scientific article published on 15 October 2020

Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery

scientific article

Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13q

scientific article published on 08 December 2008

Genomic analyses implicate noncoding de novo variants in congenital heart disease

scientific article published on 29 June 2020

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

scientific article

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

scientific article

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

scientific article published on 30 December 2013

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

scientific article

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

scientific article published on 27 September 2016

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

scientific article published on 09 February 2021

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity

scientific article

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation

scientific article (publication date: 30 September 2014)

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

scientific article published on 9 May 2006

Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses

scientific article

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

scientific article published on 20 November 2020

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

scientific article published on 22 January 2015

Spectrum of somatic mitochondrial mutations in five cancers

scientific article

THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

scientific article published on 15 November 2016

Truncations of titin causing dilated cardiomyopathy.

scientific article

List of works by Steven R DePalma

16S ribosomal RNA sequence analysis for determination of phylogenetic relationship among methylotrophs

5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

De novo mutations in histone-modifying genes in congenital heart disease.

Discordant clinical features of identical hypertrophic cardiomyopathy twins

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery

Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13q

Genomic analyses implicate noncoding de novo variants in congenital heart disease

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Spectrum of somatic mitochondrial mutations in five cancers

THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

Truncations of titin causing dilated cardiomyopathy.