Jamie D. Kapplinger: search on Z-Library

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1

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

Jamie D. Kapplinger, Andrew P. Landstrom, Benjamin A. Salisbury, Thomas E. Callis, Guido D. Pollevick, David J. Tester, Moniek G.P.J. Cox, Zahir Bhuiyan, Hennie Bikker, Ans C.P. Wiesfeld, Richard N.W.

Journal:

Journal of the American College of Cardiology

Year:

2011

Language:

english

File:

PDF, 1.78 MB

english, 2011

2

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

Kapplinger, Jamie D., Tester, David J., Alders, Marielle, Benito, BegoÃ±a, Berthet, Myriam, Brugada, Josep, Brugada, Pedro, Fressart, VÃ©ronique, Guerchicoff, Alejandra, Harris-Kerr, Carole, Kamakura,

Journal:

Year:

2010

Language:

english

File:

PDF, 1.04 MB

english, 2010

3

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

Kapplinger, Jamie D., Tester, David J., Salisbury, Benjamin A., Carr, Janet L., Harris-Kerr, Carole, Pollevick, Guido D., Wilde, Arthur A.M., Ackerman, Michael J.

Journal:

Year:

2009

Language:

english

File:

PDF, 809 KB

english, 2009

4

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

Kapplinger, Jamie D., Landstrom, Andrew P., Bos, J. Martijn, Salisbury, Benjamin A., Callis, Thomas E., Ackerman, Michael J.

Journal:

Journal of Cardiovascular Translational Research

Year:

2014

Language:

english

File:

PDF, 513 KB

english, 2014

5

Enhancing the Predictive Power of Mutations in the C-Terminus of theKCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

Kapplinger, Jamie D., Tseng, Andrew S., Salisbury, Benjamin A., Tester, David J., Callis, Thomas E., Alders, Marielle, Wilde, Arthur A. M., Ackerman, Michael J.

Journal:

Journal of Cardiovascular Translational Research

Year:

2015

Language:

english

File:

PDF, 947 KB

english, 2015

6

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

Murphy, Sinead L., Anderson, Jason H., Kapplinger, Jamie D., Kruisselbrink, Teresa M., Gersh, Bernard J., Ommen, Steve R., Ackerman, Michael J., Bos, J. Martijn

Journal:

Journal of Cardiovascular Translational Research

Year:

2016

Language:

english

File:

PDF, 502 KB

english, 2016

7

Founder Mutation Genotyping and Sudden Cardiac Arrest

Kapplinger, Jamie D., Ackerman, Michael J.

Journal:

Circulation Cardiovascular Genetics

Year:

2016

Language:

english

File:

PDF, 469 KB

english, 2016

8

The Promise and Peril of Precision Medicine

Ackerman, Jaeger P., Bartos, Daniel C., Kapplinger, Jamie D., Tester, David J., Delisle, Brian P., Ackerman, Michael J.

Journal:

Mayo Clinic Proceedings

Year:

2016

Language:

english

File:

PDF, 822 KB

english, 2016

9

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

Kapplinger, Jamie D, Erickson, Anders, Asuri, Sirisha, Tester, David J, McIntosh, Sarah, Kerr, Charles R, Morrison, Julie, Tang, Anthony, Sanatani, Shubhayan, Arbour, Laura, Ackerman, Michael J

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 830 KB

english, 2017

10

Lidocaine Attenuation Testing: An In Vivo Investigation of Putative LQT3-Associated Variants in the SCN5A- Encoded Sodium Channel

Heather N. Anderson, M.D., Bos, J. Martijn, Kapplinger, Jamie D., Meskill, Jana M., Ye, Dan, Ackerman, Michael J.

Journal:

Year:

2017

Language:

english

File:

PDF, 642 KB

english, 2017

11

Sudden infant death syndrome and inherited cardiac conditions

Baruteau, Alban-Elouen, Tester, David J., Kapplinger, Jamie D., Ackerman, Michael J., Behr, Elijah R.

Journal:

Nature Reviews Cardiology (formerly Nature Clinical Practice Cardiovascular Medicine)

Year:

2017

Language:

english

File:

PDF, 987 KB

english, 2017

12

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

Clemens, Daniel J., Lentino, Anne R., Kapplinger, Jamie D., Ye, Dan, Zhou, Wei, Tester, David J., Ackerman, Michael J.

Journal:

Year:

2017

Language:

english

File:

PDF, 2.08 MB

english, 2017

13

Even pore-localizing missense variants at highly conserved sites in KCNQ1 -encoded K v 7.1 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

Paquin, Ashley, Ye, Dan, Tester, David J., Kapplinger, Jamie D., Zimmermann, Michael T., Ackerman, Michael J.

Journal:

HeartRhythm Case Reports

Year:

2017

Language:

english

File:

PDF, 1.19 MB

english, 2017