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Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Mayo Clinic proceedings, 2008-06, Vol.83 (6), p.630-638

2008

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Whole Genome Sequencing in Hypoplastic Left Heart Syndrome

Journal of cardiovascular development and disease, 2022-04, Vol.9 (4), p.117

2022

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TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy

Human molecular genetics, 2014-11, Vol.23 (21), p.5793-5804

2014

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Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways

Journal of cardiovascular development and disease, 2023-09, Vol.10 (9), p.393

2023

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Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations

The American heart journal, 2009-11, Vol.158 (5), p.799-805

2009

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Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy

The American heart journal, 2008-06, Vol.155 (6), p.1128-1134

2008

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Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Mayo Clinic proceedings, 2008-06, Vol.83 (6), p.630-638

2008

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Model system identification of novel congenital heart disease gene candidates: focus on RPL13

Human molecular genetics, 2019-12, Vol.28 (23), p.3954-3969

2019

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Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome

Human genetics, 2015-09, Vol.134 (9), p.1003-1011

2015

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Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction

Circulation. Cardiovascular genetics, 2015-08, Vol.8 (4), p.564

2015

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Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy

Human molecular genetics, 2017-08, Vol.26 (15), p.2874-2881

2017

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CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome

Circulation. Genomic and precision medicine, 2022-04, Vol.15 (2), p.e003523-e003523

2022

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Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection

Circulation. Genomic and precision medicine, 2019-04, Vol.12 (4), p.e002437-e002437

2019

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Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies

Circulation. Genomic and precision medicine, 2021-02, Vol.14 (1), p.e003126-e003126

2021

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Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome

Circulation. Genomic and precision medicine, 2023-02, Vol.16 (1), p.e003761-e003761

2023

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Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy

Circulation. Cardiovascular genetics, 2011-12, Vol.4 (6), p.585

2011

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Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

Biochemical and biophysical research communications, 2006-12, Vol.351 (4), p.896-902

2006

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The Soluble Guanylate Cyclase Genetic Variant rs13139571 Is Associated with an “Unfavorable” Metabolic Phenotype in an US General Community

Journal of cardiac failure, 2014-08, Vol.20 (8), p.S44-S44

2014

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Abstract 193: RNA-sequencing of Disease-specific iPSC as a New Filter to Identify Genes Associated With Hypoplastic Left Heart Syndrome

Circulation research, 2015-07, Vol.117 (suppl_1)

2015

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Genomes or exomes: evaluation of cost, time and coverage

GenomeBiology.com, 2011, Vol.12 (Suppl 1), p.P43

2011

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Genomes or exomes: evaluation of cost, time and coverage

Genome biology, 2011-01, Vol.12 (S1), p.P43-P43, Article P43

2011

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Abstract 3412: Molecular and Cellular Characterization of Splice Site Mutations in MYBPC3 -encoded Myosin Binding Protein C

Circulation (New York, N.Y.), 2008-10, Vol.118 (suppl_18)

2008

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Abstract 3393: Expression Patterns of the Cardiac Myofilament Proteins- Analysis of Surgical Myectomy Tissue from Patients with Sarcomeric Hypertrophic Cardiomyopathy

Circulation (New York, N.Y.), 2007-10, Vol.116 (suppl_16)

2007

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Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Whole Genome Sequencing in Hypoplastic Left Heart Syndrome

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy

Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways

Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations

Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Model system identification of novel congenital heart disease gene candidates: focus on RPL13

Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome

Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction

Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy

CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome

Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection

Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies

Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

The Soluble Guanylate Cyclase Genetic Variant rs13139571 Is Associated with an “Unfavorable” Metabolic Phenotype in an US General Community

Abstract 193: RNA-sequencing of Disease-specific iPSC as a New Filter to Identify Genes Associated With Hypoplastic Left Heart Syndrome

Genomes or exomes: evaluation of cost, time and coverage

Genomes or exomes: evaluation of cost, time and coverage

Abstract 3412: Molecular and Cellular Characterization of Splice Site Mutations in MYBPC3 -encoded Myosin Binding Protein C

Abstract 3393: Expression Patterns of the Cardiac Myofilament Proteins- Analysis of Surgical Myectomy Tissue from Patients with Sarcomeric Hypertrophic Cardiomyopathy

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