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Variants of Uncertain Significance and "Missing Pathogenicity"

Journal of the American Heart Association, 2020-02, Vol.9 (3), p.e015588-e015588

2020

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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Science translational medicine, 2015-01, Vol.7 (270), p.270ra6

2015

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High-Frequency Echocardiography　― Transformative Clinical and Research Applications in Humans, Mice, and Zebrafish

Circulation Journal, 2018/02/23, Vol.82(3), pp.620-628

2018

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Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management

Heart, lung & circulation, 2019-01, Vol.28 (1), p.31-38

2019

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Genetics of Atrial Fibrillation: State of the Art in 2017

Heart, lung & circulation, 2017-09, Vol.26 (9), p.894-901

2017

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Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Genetics in medicine, 2019-03, Vol.21 (3), p.650-662

2019

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Precision Medicine in the Management of Dilated Cardiomyopathy

Journal of the American College of Cardiology, 2019-12, Vol.74 (23), p.2921-2938

2019

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Molecular Mechanisms of Inherited Cardiomyopathies

Physiological reviews, 2002-10, Vol.82 (4), p.945-980

2002

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Standardized echocardiographic assessment of cardiac function in normal adult zebrafish and heart disease models

Disease models & mechanisms, 2017-01, Vol.10 (1), p.63-76

2017

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Guidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy

Heart, lung & circulation, 2011-11, Vol.20 (11), p.691-693

Fatkin, Diane, MD, FRACP, FCSANZ

2011

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R222Q SCN5A Mutation Is Associated With Reversible Ventricular Ectopy and Dilated Cardiomyopathy

Journal of the American College of Cardiology, 2012-10, Vol.60 (16), p.1566-1573

2012

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Epistatic Effects of Potassium Channel Variation on Cardiac Repolarization and Atrial Fibrillation Risk

Journal of the American College of Cardiology, 2012-03, Vol.59 (11), p.1017-1025

2012

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ETV1: A New Player in Atrial Remodeling

Circulation research, 2018-08, Vol.123 (5), p.515-517

Fatkin, Diane

2018

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Mechanisms of TTNtv-Related Dilated Cardiomyopathy: Insights from Zebrafish Models

Journal of cardiovascular development and disease, 2021-01, Vol.8 (2), p.10

2021

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Complexity of murine cardiomyocyte miRNA biogenesis, sequence variant expression and function

PloS one, 2012-02, Vol.7 (2), p.e30933-e30933

2012

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A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death

Journal of molecular and cellular cardiology, 2013-08, Vol.61, p.123-132

2013

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Decreased bone formation and osteopenia in lamin a/c-deficient mice

PloS one, 2011-04, Vol.6 (4), p.e19313-e19313

2011

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Atrial cardiomyopathy: Current and future imaging methods for assessment of atrial structure and function

Frontiers in cardiovascular medicine, 2023-03, Vol.10, p.1099625-1099625

2023

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A Langendorff-like system to quantify cardiac pump function in adult zebrafish

Disease models & mechanisms, 2018-09, Vol.11 (9)

2018

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Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

The Journal of clinical investigation, 2004-02, Vol.113 (3), p.357-369

2004

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Pathways of Ca²⁺ entry and cytoskeletal damage following eccentric contractions in mouse skeletal muscle

Journal of applied physiology (1985), 2012-06, Vol.112 (12), p.2077-2086

2012

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Neuregulin 1 Sustains the Gene Regulatory Network in Both Trabecular and Nontrabecular Myocardium

Circulation research, 2010-09, Vol.107 (6), p.715-727

2010

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Snowflakes in the heart: an ultrasonic marker of severe hypercoagulability

The Lancet (British edition), 2015-01, Vol.385 (9964), p.302-302

2015

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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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Identification and Functional Characterization of Cardiac Troponin I As a Novel Disease Gene in Autosomal Dominant Dilated Cardiomyopathy

Circulation research, 2009-08, Vol.105 (4), p.375-382

2009

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Variants of Uncertain Significance and "Missing Pathogenicity"

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

High-Frequency Echocardiography　― Transformative Clinical and Research Applications in Humans, Mice, and Zebrafish

Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management

Genetics of Atrial Fibrillation: State of the Art in 2017

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Precision Medicine in the Management of Dilated Cardiomyopathy

Molecular Mechanisms of Inherited Cardiomyopathies

Standardized echocardiographic assessment of cardiac function in normal adult zebrafish and heart disease models

Guidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy

R222Q SCN5A Mutation Is Associated With Reversible Ventricular Ectopy and Dilated Cardiomyopathy

Epistatic Effects of Potassium Channel Variation on Cardiac Repolarization and Atrial Fibrillation Risk

ETV1: A New Player in Atrial Remodeling

Mechanisms of TTNtv-Related Dilated Cardiomyopathy: Insights from Zebrafish Models

Complexity of murine cardiomyocyte miRNA biogenesis, sequence variant expression and function

A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death

Decreased bone formation and osteopenia in lamin a/c-deficient mice

Atrial cardiomyopathy: Current and future imaging methods for assessment of atrial structure and function

A Langendorff-like system to quantify cardiac pump function in adult zebrafish

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

Pathways of Ca²⁺ entry and cytoskeletal damage following eccentric contractions in mouse skeletal muscle

Neuregulin 1 Sustains the Gene Regulatory Network in Both Trabecular and Nontrabecular Myocardium

Snowflakes in the heart: an ultrasonic marker of severe hypercoagulability

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

Identification and Functional Characterization of Cardiac Troponin I As a Novel Disease Gene in Autosomal Dominant Dilated Cardiomyopathy

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