Jamie D. Kapplinger

发表

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

A. Wilde, Jamie D. Kapplinger, D. Tester, 2009, Heart rhythm.

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Michael J Ackerman, Joshua C Denny, Dan M Roden, 2016, JAMA.

The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most.

Michael J Ackerman, Daniel C Bartos, Brian P Delisle, 2016, Mayo Clinic proceedings.

J Wave Syndrome-Susceptibility Mutations Versus Benign Rare Variants: How Do We Decide?

Jamie D. Kapplinger, D. Tester, M. Ackerman, 2016 .

Enhanced Classification of Brugada Syndrome – Associated and Long-QT Syndrome – Associated Genetic Variants in the SCN 5 A-Encoded Nav 1 . 5 Cardiac Sodium Channel

T. Callis, A. Wilde, Jamie D. Kapplinger, 2022 .

Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

Yolan J. Reckman, A. Tijsen, Y. Pinto, 2011, European heart journal.

Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.

Jamie D. Kapplinger, M. Ackerman, J. Bos, 2017, Heart rhythm.

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

T. Callis, A. Wilde, Jamie D. Kapplinger, 2015, Journal of Cardiovascular Translational Research.

Response by Kapplinger et al to Letter Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation".

Jamie D. Kapplinger, D. Tester, M. Ackerman, 2018, Circulation. Genomic and precision medicine.

Utilizing the Genome Aggregation Database, Computational Pathogenicity Prediction Tools, and Patch Clamp Heterologous Expression Studies to Demote Previously Published Type 1 Long QT Syndrome Mutations from Pathogenic to Benign

Jamie D. Kapplinger, D. Tester, M. Ackerman, 2019 .

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

Michael J Ackerman, T. Callis, Jamie D. Kapplinger, 2014, Journal of Cardiovascular Translational Research.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

J. Towbin, J. Brugada, R. Brugada, 2010, Heart rhythm.

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

R. Hauer, H. Calkins, T. Callis, 2011, Journal of the American College of Cardiology.

Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation

T. Callis, A. Wilde, N. Larson, 2018, Circulation. Genomic and precision medicine.

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

Michael J Ackerman, Marielle Alders, A. Wilde, 2012, Circulation. Cardiovascular genetics.

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1

Jamie D. Kapplinger, D. Tester, M. Ackerman, 2017, Journal of Medical Genetics.

Sudden infant death syndrome and inherited cardiac conditions

E. Behr, Jamie D. Kapplinger, D. Tester, 2017, Nature Reviews Cardiology.

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry

Toshihiro Tanaka, N. Hagiwara, H. Morita, 2017, Circulation.

Founder Mutation Genotyping and Sudden Cardiac Arrest: The Promise of Precision Medicine Fulfilled or the Next Step Into Precise Uncertainty.

Jamie D. Kapplinger, M. Ackerman, M. Ackerman, 2016, Circulation. Cardiovascular genetics.

MicroRNAs in cardiac diseases : The devil is in the details

Yolan J. Reckman, E. Creemers, H. Tan, 2013 .

Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy

B. Gersh, S. Ommen, Jamie D. Kapplinger, 2016, Journal of Cardiovascular Translational Research.

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Jamie D. Kapplinger, D. Tester, W. Zhou, 2017, Heart rhythm.

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation

Michael T. Zimmermann, Jamie D. Kapplinger, D. Tester, 2017, HeartRhythm case reports.

Enhanced Classification of Brugada Syndrome–Associated and Long-QT Syndrome–Associated Genetic Variants in the SCN5A-Encoded Nav1.5 Cardiac Sodium Channel

T. Callis, A. Wilde, Jamie D. Kapplinger, 2015, Circulation. Cardiovascular genetics.

The Compounding Dilemma of Genetic Noise: Identification of the Genetic Noise Rate in Genes Associated with Cardiac Channelopathies

Jamie D. Kapplinger, D. Tester, M. Ackerman, 2013 .