Giudicessi, John: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

The QT Interval

Giudicessi, John R., Noseworthy, Peter A., Ackerman, Michael J.

Journal:

Year:

2019

Language:

english

File:

PDF, 43 KB

english, 2019

2

A Mutation in the Voltage-Sensor of Kv7.1 Prevents PKA Activation of IKs to Elicit Concealed Type 1 Long QT Syndrome during Stress

Bartos, Daniel C., Burgess, Don E., Reloj, Allison R., Giudicessi, John, Tester, David J., Ackerman, Michael J., Delisle, Brian P.

Journal:

Biophysical Journal

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

3

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

John R. Giudicessi, Michael J. Ackerman

Journal:

Translational Research

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

4

Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign

Mattivi, Connor L., Ye, Dan, Tester, David J., Clemens, Daniel J., Zhou, Wei, Giudicessi, John R., Ackerman, Michael J.

Journal:

Year:

2019

Language:

english

File:

PDF, 1.76 MB

english, 2019

5

CLINICAL UTILITY OF A PHENOTYPE ENHANCED MYH7-SPECIFIC VARIANT CLASSIFICATION FRAMEWORK IN HYPERTROPHIC CARDIOMYOPATHY GENETIC TESTING

Mattivi, Connor, Bos, Martijn, Giudicessi, John, Ackerman, Michael

Journal:

Journal of the American College of Cardiology

Year:

2019

File:

PDF, 194 KB

2019

6

Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

Tester, David J., Bombei, Hannah M., Fitzgerald, Kristi K., Giudicessi, John R., Pitel, Beth A., Thorland, Erik C., Russell, Barbara G., Hamrick, Samantha K., Kim, C. S. John, Haglund-Turnquist, Carla

Journal:

JAMA Cardiology

Year:

2020

Language:

english

File:

PDF, 1.25 MB

english, 2020

7

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population

Clemens, Daniel J., Gray, Belinda, Bagnall, Richard D., Tester, David J., Dotzler, Steven M., Giudicessi, John R., Matthews, Emma, Semsarian, Christopher, Behr, Elijah R., Ackerman, Michael J.

Journal:

Circulation: Genomic and Precision Medicine

Year:

2020

File:

PDF, 335 KB

2020

8

Time to Redefine the Natural History andÂ Clinical Management of Type 1 Andersen-Tawil Syndrome?

Ackerman, Michael J., Giudicessi, John R.

Journal:

Journal of the American College of Cardiology

Year:

2020

File:

PDF, 129 KB

2020

9

Transient outward current (Ito) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

Giudicessi, John R., Ye, Dan, Tester, David J., Crotti, Lia, Mugione, Alessandra, Nesterenko, Vladislav V., Albertson, Richard M., Antzelevitch, Charles, Schwartz, Peter J., Ackerman, Michael J.

Journal:

Year:

2011

Language:

english

File:

PDF, 2.13 MB

english, 2011

10

Long QT Syndrome Type 5-Lite: Defining the Clinical Phenotype Associated with the Potentially Pro-Arrhythmic p.Asp85Asn-KCNE1 Common Genetic Variant

Lane, Conor, Giudicessi, John R., Ye, Dan, Tester, David J., Rohatgi, Ram K., Bos, J. Martijn, Ackerman, Michael J.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.40 MB

english, 2018

11

A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome

Bains, Sahej, Tester, David J., Asirvatham, Samuel J., Noseworthy, Peter A., Ackerman, Michael J., Giudicessi, John R.

Journal:

Mayo Clinic Proceedings

Year:

2019

Language:

english

File:

PDF, 1.46 MB

english, 2019

12

The QTc-Polygenic Risk Score (QTc-PRS) and its Contribution to Type 1, Type 2, and Type 3 Long QT Syndrome in Probands and Genotype-Positive Family Members

Turkowski, Kari L., Dotzler, Steven M., Tester, David J., Giudicessi, John R., Bos, J. Martijn, Speziale, Ashley D., Vollenweider, Jason M., Ackerman, Michael J.

Journal:

Circulation: Genomic and Precision Medicine

Year:

2020

File:

PDF, 231 KB

2020

13

Purkinje System Hyperexcitability and Ventricular Arrhythmia Risk in Type 3 Long QT Syndrome

Barake, Walid, Giudicessi, John R., Asirvatham, Samuel J., Ackerman, Michael J.

Journal:

Year:

2020

File:

PDF, 909 KB

2020

14

Genetic testing in heritable cardiac arrhythmia syndromes

Giudicessi, John R., Ackerman, Michael J.

Journal:

Current Opinion in Cardiology

Year:

2013

Language:

english

File:

PDF, 738 KB

english, 2013

15

Potassium-channel mutations and cardiac arrhythmias—diagnosis and therapy

Giudicessi, John R., Ackerman, Michael J.

Journal:

Nature Reviews Cardiology (formerly Nature Clinical Practice Cardiovascular Medicine)

Year:

2012

Language:

english

File:

PDF, 1.16 MB

english, 2012

16

Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young

Tester, David J., Ackerman, Jaeger P., Giudicessi, John R., Ackerman, Nicholas C., Cerrone, Marina, Delmar, Mario, Ackerman, Michael J.

Journal:

JACC: Clinical Electrophysiology

Year:

2018

Language:

english

File:

PDF, 476 KB

english, 2018

17

Urgent Guidance for Navigating and Circumventing the QTc-Prolonging and Torsadogenic Potential of Possible Pharmacotherapies for Coronavirus Disease 19 (COVID-19)

Giudicessi, John R., Noseworthy, Peter A., Friedman, Paul A., Ackerman, Michael J.

Journal:

Mayo Clinic Proceedings

Year:

2020

File:

PDF, 1.43 MB

2020

18

Prevalence and clinical phenotype of concomitant long QT syndrome and arrhythmogenic bileaflet mitral valve prolapse

Giudicessi, John R., Rohatgi, Ram K., Bos, Johan M., Ackerman, Michael J.

Journal:

International Journal of Cardiology

Year:

2018

Language:

english

File:

PDF, 245 KB

english, 2018

19

Clinical Utility of a Phenotype Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing

Mattivi, Connor L., Bos, J. Martijn, Bagnall, Richard D., Nowak, Natalie, Giudicessi, John R., Ommen, Steve R., Semsarian, Christopher, Ackerman, Michael J.

Journal:

Circulation: Genomic and Precision Medicine

Year:

2020

File:

PDF, 383 KB

2020

20

Potential depot medroxyprogesterone acetate–triggered torsades de pointes in a case of congenital type 2 long QT syndrome

Giudicessi, John R., Brost, Brian C., Traynor, Kyle D., Ackerman, Michael J.

Journal:

Year:

2012

Language:

english

File:

PDF, 854 KB

english, 2012

21

Machine Learning and Rare Variant Adjudication in Type 1 Long QT Syndrome

Giudicessi, John R.

Journal:

Circulation Cardiovascular Genetics

Year:

2017

Language:

english

File:

PDF, 693 KB

english, 2017

22

Clinical and Functional Reappraisal of Alleged Type 5 Long QT Syndrome-Causative Genetic Variants in the KCNE1-Encoded minK Î²-Subunit

Garmany, Ramin, Giudicessi, John R., Ye, Dan, Zhou, Wei, Tester, David J., Ackerman, Michael J.

Journal:

Year:

2020

File:

PDF, 4.37 MB

2020

23

Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors

Giudicessi, John R, Ye, Dan, Stutzman, Marissa J, Zhou, Wei, Tester, David J, Ackerman, Michael J

Journal:

Year:

2020

File:

PDF, 628 KB

2020

24

Idiopathic ventricular fibrillation: the ongoing quest for diagnostic refinement

Conte, Giulio, Giudicessi, John R, Ackerman, Michael J

Journal:

Year:

2020

File:

PDF, 506 KB

2020

25

Genetic susceptibility for COVID-19âassociated sudden cardiac death in African Americans

Giudicessi, John R., Roden, Dan M., Wilde, Arthur A.M., Ackerman, Michael J.

Journal:

Year:

2020

File:

PDF, 2.69 MB

2020

26

Calcium Revisited

Giudicessi, John R., Ackerman, Michael J.

Journal:

Circulation Arrhythmia and Electrophysiology

Year:

2016

Language:

english

File:

PDF, 3.20 MB

english, 2016

27

Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Genetic Testing

Lia Crotti, Cherisse A. Marcou, David J. Tester, Silvia Castelletti, John R. Giudicessi, Margherita Torchio, Argelia Medeiros-Domingo, Savastano Simone, Melissa L. Will, Federica Dagradi, Peter J. Sch

Journal:

Journal of the American College of Cardiology

Year:

2012

Language:

english

File:

PDF, 975 KB

english, 2012

28

Findings of Uncertain Significance and a Family History of Sudden Death

Ackerman, Michael J., Giudicessi, John R.

Journal:

Journal of the American College of Cardiology

Year:

2019

Language:

english

File:

PDF, 123 KB

english, 2019

29

Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum

Giudicessi, John R., Ackerman, Michael J.

Journal:

International Journal of Cardiology

Year:

2018

Language:

english

File:

PDF, 837 KB

english, 2018

30

The Genetic Architecture of Long QT Syndrome: A Critical Reappraisal

Giudicessi, John R., Wilde, Arthur A.M., Ackerman, Michael J.

Journal:

Trends in Cardiovascular Medicine

Year:

2018

Language:

english

File:

PDF, 1.78 MB

english, 2018

31

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death

John R. Giudicessi, Dan Ye, Chad J. Kritzberger, Vladislav V. Nesterenko, David J. Tester, Charles Antzelevitch, Michael J. Ackerman

Journal:

Year:

2012

Language:

english

File:

PDF, 3.40 MB

english, 2012

32

RARE GENETIC VARIANTS IN FLNC-ENCODED FILAMIN C MAY SERVE AS A PATHOGENIC SUBSTRATE FOR ARRHYTHMOGENIC BI-LEAFLET MITRAL VALVE PROLAPSE SYNDROME WITH CONCOMITANT LEFT VENTRICULAR ENLARGEMENT

Giudicessi, John, Bos, Johan, Tester, David, Asirvatham, Samuel, Kapa, Suraj, Noseworthy, Peter, Ackerman, Michael

Journal:

Journal of the American College of Cardiology

Year:

2018

Language:

english

File:

PDF, 192 KB

english, 2018

33

Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT SyndromeâSusceptibility Gene-Disease Associations

Giudicessi, John R., Rohatgi, Ram K., Tester, David J., Ackerman, Michael J.

Journal:

Year:

2020

Language:

english

File:

PDF, 367 KB

english, 2020

34

Knockout of SORBS2 Protein Disrupts the Structural Integrity of Intercalated Disc and Manifests Features of Arrhythmogenic Cardiomyopathy

Ding, Yonghe, Yang, Jingchun, Chen, Peng, Lu, Tong, Jiao, Kunli, Tester, David J., Giudicessi, John R., Jiang, Kai, Ackerman, Michael J., Li, Yigang, Wang, Dao Wu, Lee, HoNâchi, Wang, Dao Wen, Xu, X

Journal:

Journal of the American Heart Association

Year:

2020

File:

PDF, 2.83 MB

2020

35

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims

Clemens, Daniel J., Gray, Belinda, Bagnall, Richard D., Tester, David J., Giudicessi, John R., Maleszewski, Joseph J., Crotti, Lia, Schwartz, Peter J., Matthews, Emma, Semsarian, Christopher, Behr, El

Journal:

Circulation: Genomic and Precision Medicine

Year:

2020

File:

PDF, 486 KB

2020

36

Post-Mortem Cardiovascular Implantable Electronic Device Interrogation

Ackerman, Michael J., Giudicessi, John R.

Journal:

Journal of the American College of Cardiology

Year:

2016

Language:

english

File:

PDF, 124 KB

english, 2016

37

Precision Cardiovascular Medicine: State of Genetic Testing

Giudicessi, John R., Kullo, Iftikhar J., Ackerman, Michael J.

Journal:

Mayo Clinic Proceedings

Year:

2017

Language:

english

File:

PDF, 664 KB

english, 2017

38

The QT Interval

Giudicessi, John R., Noseworthy, Peter A., Ackerman, Michael J.

Journal:

Year:

2019

File:

PDF, 43 KB

2019

39

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation

Bartos, Daniel C., Giudicessi, John R., Tester, David J., Ackerman, Michael J., Ohno, Seiko, Horie, Minoru, Gollob, Michael H., Burgess, Don E., Delisle, Brian P.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.42 MB

english, 2014

40

Genotype- and Phenotype-Guided Management of Congenital Long QT Syndrome

Giudicessi, John R., Ackerman, Michael J.

Journal:

Current Problems in Cardiology

Year:

2013

Language:

english

File:

PDF, 1.96 MB

english, 2013

41

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing

Giudicessi, John R., Roden, Dan M., Wilde, Arthur A.M., Ackerman, Michael J.

Journal:

Year:

2018

Language:

english

File:

PDF, 582 KB

english, 2018

42

Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication

Stutzman, Marissa J., Ye, Dan, Tester, David J., Giudicessi, John R., Ackerman, Michael J.

Journal:

HeartRhythm Case Reports

Year:

2019

Language:

english

File:

PDF, 540 KB

english, 2019

43

Exercise Testing Oversights Underlie Missed and Delayed Diagnosis of Catecholaminergic Polymorphic Ventricular Tachycardia in Young Sudden Cardiac Arrest Survivors

Giudicessi, John R., Ackerman, Michael J.

Journal:

Year:

2019

Language:

english

File:

PDF, 3.99 MB

english, 2019

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски