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Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Nature genetics, 1997-01, Vol.15 (1), p.30-35

1997

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

The Journal of clinical investigation, 2005-05, Vol.115 (5), p.1250-1257

2005

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Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy

The New England journal of medicine, 2010-08, Vol.363 (6), p.552-563

2010

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Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

The New England journal of medicine, 2008-05, Vol.358 (18), p.1899-1908

2008

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The Genetic Basis for Cardiomyopathy: from Mutation Identification to Mechanistic Paradigms

Cell, 2001-02, Vol.104 (4), p.557-567

2001

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Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy

The New England journal of medicine, 2005-01, Vol.352 (4), p.362-372

2005

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The genetic basis for cardiac remodeling

Annual review of genomics and human genetics, 2005-01, Vol.6 (1), p.185-216

2005

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Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban

Science (American Association for the Advancement of Science), 2003-02, Vol.299 (5611), p.1410-1413

2003

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Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy

Journal of the American College of Cardiology, 2004-12, Vol.44 (11), p.2125-2132

2004

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Hypertrophic cardiomyopathy: translating cellular cross talk into therapeutics

The Journal of cell biology, 2012-10, Vol.199 (3), p.417-421

2012

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Genetics of hypertrophic cardiomyopathy

Current opinion in cardiology, 2010-05, Vol.25 (3), p.205-209

2010

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Missense Mutations in the BCS1L Gene as a Cause of the Björnstad Syndrome

The New England journal of medicine, 2007-02, Vol.356 (8), p.809-819

2007

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Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

The New England journal of medicine, 1999-12, Vol.341 (23), p.1715-1724

1999

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A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

Cell, 2001-09, Vol.106 (6), p.709-721

2001

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Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

American journal of human genetics, 2012-09, Vol.91 (3), p.513-519

2012

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Mutations of TTN , encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

Nature genetics, 2002-02, Vol.30 (2), p.201-204

2002

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Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

The New England journal of medicine, 2000-12, Vol.343 (23), p.1688-1696

2000

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Gene mutations in apical hypertrophic cardiomyopathy

Circulation (New York, N.Y.), 2005-11, Vol.112 (18), p.2805-2811

2005

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Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy

Journal of the American College of Cardiology, 2010-01, Vol.55 (4), p.320-329

2010

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Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease

Journal of molecular and cellular cardiology, 2008-02, Vol.44 (2), p.293-303

2008

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Molecular Genetics of Lidocaine-Containing Cardioplegia in the Human Heart During Cardiac Surgery

The Annals of thoracic surgery, 2018-11, Vol.106 (5), p.1379-1387

2018

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Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

Circulation (New York, N.Y.), 2002-01, Vol.105 (4), p.446-451

2002

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Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy

Circulation (New York, N.Y.), 2002-06, Vol.105 (25), p.2992-2997

2002

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Cardiac Myosin-Binding Protein-C Phosphorylation and Cardiac Function

Circulation research, 2005-11, Vol.97 (11), p.1156-1163

2005

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Transgenic mice overexpressing mutant PRKAG2 define the cause of wolff-parkinson-white syndrome in glycogen storage cardiomyopathy

Circulation (New York, N.Y.), 2003-06, Vol.107 (22), p.2850-2856

2003

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Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

The Genetic Basis for Cardiomyopathy: from Mutation Identification to Mechanistic Paradigms

Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy

The genetic basis for cardiac remodeling

Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban

Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy: translating cellular cross talk into therapeutics

Genetics of hypertrophic cardiomyopathy

Missense Mutations in the BCS1L Gene as a Cause of the Björnstad Syndrome

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

Mutations of TTN , encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

Gene mutations in apical hypertrophic cardiomyopathy

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease

Molecular Genetics of Lidocaine-Containing Cardioplegia in the Human Heart During Cardiac Surgery

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy

Cardiac Myosin-Binding Protein-C Phosphorylation and Cardiac Function

Transgenic mice overexpressing mutant PRKAG2 define the cause of wolff-parkinson-white syndrome in glycogen storage cardiomyopathy

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