Nicole M. Johnson

Publications9
h-index6
Citations236
Highly Influential Citations13
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Genetic testing for dilated cardiomyopathy in clinical practice.
BACKGROUND Familial involvement is common in dilated cardiomyopathy (DCM) and >40 genes have been implicated in causing disease. However, the role of genetic testing in clinical practice is not well… Expand
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Novel and Highly Lethal NKX2.5 Missense Mutation in a Family With Sudden Death and Ventricular Arrhythmia
To date, several disease-related mutations in NKX2-5, a cardiac-specific homeobox gene, have been documented in patients with a variety of congenital heart diseases (CHDs). The most commonly reported… Expand
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Familial Hypertrophic Cardiomyopathy Associated with Cardiac β-Myosin Heavy Chain and Troponin I Mutations
We report an African American family with hypertrophic cardiomyopathy in which an individual with severe disease has alterations in two sarcomeric protein genes, cardiac β-myosin heavy chain (MYH7)… Expand
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Genetic Evaluation of Familial Cardiomyopathy
Hereditary forms of hypertrophic, dilated, restrictive, and right ventricular cardiomyopathies are frequently seen. Patterns of inheritance include autosomal dominant, autosomal recessive, X-linked,… Expand
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Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients
Inherited cardiovascular (CV) conditions are common, and comprehensive care of affected families often involves genetic testing. When the clinical presentations of these conditions overlap, genetic… Expand
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Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity
Advances in DNA sequencing have made large, diagnostic gene panels affordable and efficient. Broad adoption of such panels has begun to deliver on the promises of personalized medicine, but has also… Expand
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Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a genetic disease of the sarcomere that can be found in both children and adults and is associated with many causative mutations. In children who are not the… Expand
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Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis
Abstract Amyloidosis is a group of conditions characterized by the accumulation of amyloid deposits in various tissues. Among these disorders, ATTR amyloidosis occurs either with or without a TTR… Expand
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Heart failure and genomics.
We applaud the efforts by Drs. Donahue, Marchuk, and Rockman to review the current utility of genomics in heart failure ([1][1]). As they noted, this is a complex and developing field both in… Expand
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