Michael John Ackerman, MD, PhD, FACC

  • 34761 Citations
  • 103 Scopus h-Index
1991 …2020
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Research Output 1991 2019

Article
41 Citations (Scopus)

2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society

Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., Gillis, A. M., Granger, C. B., Hammill, S. C., Hlatky, M. A., Joglar, J. A., Kay, G. N., Matlock, D. D., Myerburg, R. J. & Page, R. L., Oct 1 2018, In : Heart Rhythm. 15, 10, p. e73-e189

Research output: Contribution to journalArticle

Sudden Cardiac Death
Advisory Committees
Practice Guidelines
Cardiac Arrhythmias
Guidelines
92 Citations (Scopus)

2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Executive summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society

Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., Gillis, A. M., Granger, C. B., Hammill, S. C., Hlatky, M. A., Joglar, J. A., Kay, G. N., Matlock, D. D., Myerburg, R. J. & Page, R. L., Oct 1 2018, In : Heart Rhythm. 15, 10, p. e190-e252

Research output: Contribution to journalArticle

Sudden Cardiac Death
Advisory Committees
Practice Guidelines
Cardiac Arrhythmias
Guidelines
88 Citations (Scopus)

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society

Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., Gillis, A. M., Granger, C. B., Hammill, S. C., Hlatky, M. A., Joglar, J. A., Kay, G. N., Matlock, D. D., Myerburg, R. J. & Page, R. L., Oct 2 2018, In : Journal of the American College of Cardiology. 72, 14, p. e91-e220

Research output: Contribution to journalArticle

Cardiac Electrophysiology
Torsades de Pointes
Ambulatory Monitoring
Cardiac Resynchronization Therapy
Ventricular Premature Complexes
50 Citations (Scopus)

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: Executive Summary

Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., Gillis, A. M., Granger, C. B., Hammill, S. C., Hlatky, M. A., Joglar, J. A., Kay, G. N., Matlock, D. D., Myerburg, R. J. & Page, R. L., Sep 25 2018, In : Circulation. 138, 13, p. e210-e271

Research output: Contribution to journalArticle

Cardiac Electrophysiology
Torsades de Pointes
Ambulatory Monitoring
Cardiac Resynchronization Therapy
Ventricular Premature Complexes
61 Citations (Scopus)

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death

Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., Gillis, A. M., Granger, C. B., Hammill, S. C., Hlatky, M. A., Joglar, J. A., Kay, G. N., Matlock, D. D., Myerburg, R. J. & Page, R. L., Sep 25 2018, In : Circulation. 138, 13, p. e272-e391

Research output: Contribution to journalArticle

Cardiac Electrophysiology
Torsades de Pointes
Ambulatory Monitoring
Cardiac Resynchronization Therapy
Ventricular Premature Complexes
47 Citations (Scopus)

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society

Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., Gillis, A. M., Granger, C. B., Hammill, S. C., Hlatky, M. A., Joglar, J. A., Kay, G. N., Matlock, D. D., Myerburg, R. J. & Page, R. L., Oct 2 2018, In : Journal of the American College of Cardiology. 72, 14, p. 1677-1749 73 p.

Research output: Contribution to journalArticle

Cardiac Electrophysiology
Torsades de Pointes
Ambulatory Monitoring
Cardiac Resynchronization Therapy
Ventricular Premature Complexes
9 Citations (Scopus)

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

Towbin, J. A., McKenna, W. J., Abrams, D. J., Ackerman, M. J., Calkins, H., Darrieux, F. C. C., Daubert, J. P., de Chillou, C., DePasquale, E. C., Desai, M. Y., Estes, N. A. M., Hua, W., Indik, J. H., Ingles, J., James, C. A., John, R. M., Judge, D. P., Keegan, R., Krahn, A. D., Link, M. S. & 10 others, Marcus, F. I., McLeod, C. J., Mestroni, L., Priori, S. G., Saffitz, J. E., Sanatani, S., Shimizu, W., van Tintelen, J. P., Wilde, A. A. M. & Zareba, W., Nov 2019, In : Heart rhythm. 16, 11, p. e301-e372

Research output: Contribution to journalArticle

Open Access
Risk Management
Cardiomyopathies
Arrhythmogenic Right Ventricular Dysplasia
Cardiac Arrhythmias
Heart Valve Diseases
2 Citations (Scopus)

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary

Towbin, J. A., McKenna, W. J., Abrams, D. J., Ackerman, M. J., Calkins, H., Darrieux, F. C. C., Daubert, J. P., de Chillou, C., DePasquale, E. C., Desai, M. Y., Estes, N. A. M., Hua, W., Indik, J. H., Ingles, J., James, C. A., John, R. M., Judge, D. P., Keegan, R., Krahn, A. D., Link, M. S. & 10 others, Marcus, F. I., McLeod, C. J., Mestroni, L., Priori, S. G., Saffitz, J. E., Sanatani, S., Shimizu, W., van Tintelen, J. P., Wilde, A. A. M. & Zareba, W., Nov 2019, In : Heart rhythm. 16, 11, p. e373-e407

Research output: Contribution to journalArticle

Open Access
Risk Management
Cardiomyopathies
Arrhythmogenic Right Ventricular Dysplasia
Cardiac Arrhythmias
Heart Valve Diseases
99 Citations (Scopus)

Abnormal electrocardiographic findings in athletes: Recognising changes suggestive of cardiomyopathy

Drezner, J. A., Ashley, E., Baggish, A. L., Börjesson, M., Corrado, D., Owens, D. S., Patel, A., Pelliccia, A., Vetter, V. L., Ackerman, M. J., Anderson, J., Asplund, C. A., Cannon, B. C., DiFiori, J., Fischbach, P., Froelicher, V., Harmon, K. G., Heidbuchel, H., Marek, J., Paul, S. & 6 others, Prutkin, J. M., Salerno, J. C., Schmied, C. M., Sharma, S., Stein, R. & Wilson, M., Feb 2013, In : British Journal of Sports Medicine. 47, 3, p. 137-152 16 p.

Research output: Contribution to journalArticle

Cardiomyopathies
Athletes
Electrocardiography
Sudden Cardiac Death
Sports Medicine
85 Citations (Scopus)

Abnormal electrocardiographic findings in athletes: Recognising changes suggestive of primary electrical disease

Drezner, J. A., Ackerman, M. J., Cannon, B. C., Corrado, D., Heidbuchel, H., Prutkin, J. M., Salerno, J. C., Anderson, J., Ashley, E., Asplund, C. A., Baggish, A. L., Börjesson, M., DiFiori, J. P., Fischbach, P., Froelicher, V., Harmon, K. G., Marek, J., Owens, D. S., Paul, S., Pelliccia, A. & 5 others, Schmied, C. M., Sharma, S., Stein, R., Vetter, V. L. & Wilson, M. G., Feb 2013, In : British Journal of Sports Medicine. 47, 3, p. 153-167 15 p.

Research output: Contribution to journalArticle

Athletes
Electrocardiography
Sudden Cardiac Death
Channelopathies
Sports Medicine
21 Citations (Scopus)

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis

Hennessey, J. A., Boczek, N. J., Jiang, Y. H., Miller, J. D., Patrick, W., Pfeiffer, R., Sutphin, B. S., Tester, D. J., Barajas-Martinez, H., Ackerman, M. J., Antzelevitch, C., Kanter, R. & Pitt, G. S., 2014, In : PLoS One. 9, 9, e106982.

Research output: Contribution to journalArticle

Cardiac Arrhythmias
inactivation
Genes
arrhythmia
Long QT Syndrome
11 Citations (Scopus)

A case for inclusion of genetic counselors in cardiac care

Arscott, P., Caleshu, C., Kotzer, K., Kreykes, S., Kruisselbrink, T., Orland, K., Rigelsky, C., Smith, E., Spoonamore, K., Haidle, J. L., Marvin, M., Ackerman, M. J., Hadi, A., Mani, A., Ommen, S. & Cherny, S., 2016, In : Cardiology in Review. 24, 2, p. 49-55 7 p.

Research output: Contribution to journalArticle

Genetic Testing
Cardiology
Heart Diseases
Delivery of Health Care
Costs and Cost Analysis
140 Citations (Scopus)

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation

Ye, B., Valdivia, C. R., Ackerman, M. J. & Makielski, J. C., Apr 2003, In : Physiological Genomics. 12, p. 187-193 7 p.

Research output: Contribution to journalArticle

Cardiac Arrhythmias
Clone Cells
Mutation
Gene Library
Ion Channels
16 Citations (Scopus)

Acquired long QT syndrome secondary to cesium chloride supplement

Vyas, H., Johnson, K., Houlihan, R., Bauer, B. A. & Ackerman, M. J., Dec 2006, In : Journal of Alternative and Complementary Medicine. 12, 10, p. 1011-1014 4 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Syncope
Physicians
cesium chloride
4 Citations (Scopus)

Acquired QT prolongation associated with esophagitis and acute weight loss: How to evaluate a prolonged QT interval

Koch, J. J., Porter, C. J. & Ackerman, M. J., Oct 2005, In : Pediatric Cardiology. 26, 5, p. 646-650 5 p.

Research output: Contribution to journalArticle

Esophagitis
Weight Loss
Electrocardiography
Long QT Syndrome
Herpes Simplex
54 Citations (Scopus)

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

ClinGen Cardiovascular Clinical Domain Working Group, Mar 1 2018, In : Genetics in Medicine. 20, 3, p. 351-359 9 p.

Research output: Contribution to journalArticle

Adenosine Monophosphate
Cardiomyopathies
Social Adjustment
Genes
Molecular Pathology
48 Citations (Scopus)

A functional and structural study of tropon in C mutations related to hypertrophic cardiomyopathy

Pinto, J. R., Parvatiyar, M. S., Jones, M. A., Liang, J., Ackerman, M. J. & Potter, J. D., Jul 10 2009, In : Journal of Biological Chemistry. 284, 28, p. 19090-19100 11 p.

Research output: Contribution to journalArticle

Troponin C
Hypertrophic Cardiomyopathy
Troponin
Mutation
Myosins
31 Citations (Scopus)

A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation

Bartos, D. C., Anderson, J. B., Bastiaenen, R., Johnson, J. N., Gollob, M. H., Tester, D. J., Burgess, D. E., Homfray, T., Behr, E. R., Ackerman, M. J., Guicheney, P. & Delisle, B. P., May 2013, In : Journal of Cardiovascular Electrophysiology. 24, 5, p. 562-569 8 p.

Research output: Contribution to journalArticle

Penetrance
Atrial Fibrillation
Mutation
Action Potentials
Sudden Cardiac Death
14 Citations (Scopus)

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, D. C., Giudicessi, J. R., Tester, D. J., Ackerman, M. J., Ohno, S., Horie, M., Gollob, M. H., Burgess, D. E. & Delisle, B. P., Mar 2014, In : Heart Rhythm. 11, 3, p. 459-468 10 p.

Research output: Contribution to journalArticle

Cyclic AMP-Dependent Protein Kinases
Phosphorylation
Action Potentials
Phenotype
Mutation
36 Citations (Scopus)

Allelic dropout in long QT syndrome genetic testing: A possible mechanism underlying false-negative results

Tester, D. J., Cronk, L. B., Carr, J. L., Schulz, V., Salisbury, B. A., Judson, R. S. & Ackerman, M. J., Jul 2006, In : Heart Rhythm. 3, 7, p. 815-821 7 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Genetic Testing
Exons
Single Nucleotide Polymorphism
Genotype
92 Citations (Scopus)

alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.

Wu, G., Ai, T., Kim, J. J., Mohapatra, B., Xi, Y., Li, Z., Abbasi, S., Purevjav, E., Samani, K., Ackerman, M. J., Qi, M., Moss, A. J., Shimizu, W., Towbin, J. A., Cheng, J. & Vatta, M., Aug 2008, In : Circulation. Arrhythmia and electrophysiology. 1, 3, p. 193-201 9 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Sodium Channels
Mutation
HEK293 Cells
Cardiac Myocytes
122 Citations (Scopus)

A mechanism for sudden infant death syndrome (SIDS): Stress-induced leak via ryanodine receptors

Tester, D. J., Dura, M., Carturan, E., Reiken, S., Wronska, A., Marks, A. R. & Ackerman, M. J., Jun 2007, In : Heart Rhythm. 4, 6, p. 733-739 7 p.

Research output: Contribution to journalArticle

Ryanodine Receptor Calcium Release Channel
Sudden Infant Death
Mutation
Diastole
HEK293 Cells
64 Citations (Scopus)

A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy

Vasile, V. C., Ommen, S. R., Edwards, W. D. & Ackerman, M. J., Jul 7 2006, In : Biochemical and Biophysical Research Communications. 345, 3, p. 998-1003 6 p.

Research output: Contribution to journalArticle

Vinculin
Hypertrophic Cardiomyopathy
Missense Mutation
Mutation
Proteins
2 Citations (Scopus)

A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene

Ding, Y., Long, P. A., Bos, J. M., Shih, Y. H., Ma, X., Sundsbak, R. S., Chen, J., Jiang, Y., Zhao, L., Hu, X., Wang, J., Shi, Y., Ackerman, M. J., Lin, X., Ekker, S. C., Redfield, M. M., Olson, T. M. & Xu, X. H., Apr 20 2017, In : JCI insight. 2, 8

Research output: Contribution to journalArticle

Open Access
47 Citations (Scopus)

A mutation in telethonin alters Nav1.5 function

Mazzone, A., Strege, P. R., Tester, D. J., Bernard, C. E., Faulkner, G., De Giorgio, R., Makielski, J. C., Stanghellini, V., Gibbons, S. J., Ackerman, M. J. & Farrugia, G., Jun 13 2008, In : Journal of Biological Chemistry. 283, 24, p. 16537-16544 8 p.

Research output: Contribution to journalArticle

Intestinal Pseudo-Obstruction
Mutation
Sodium Channels
Ion Channels
Romano-Ward Syndrome

A mutation in telethonin alters Nav1.5 function (Journal of Biological Chemistry (2008) 283 (16537-16544))

Mazzone, A., Strege, P. R., Tester, D. J., Bernard, C. E., Faulkner, G., De Giorgio, R., Makielski, J. C., Stanghellini, V., Gibbons, S. J., Ackerman, M. J. & Farrugia, G., Aug 8 2008, In : Journal of Biological Chemistry. 283, 32, p. 22336 1 p.

Research output: Contribution to journalArticle

Mutation
27 Citations (Scopus)

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation

Parvatiyar, M. S., Landstrom, A. P., Figueiredo-Freitas, C., Potter, J. D., Ackerman, M. J. & Pinto, J. R., Sep 14 2012, In : Journal of Biological Chemistry. 287, 38, p. 31845-31855 11 p.

Research output: Contribution to journalArticle

Troponin C
Hypertrophic Cardiomyopathy
Ventricular Fibrillation
Mutation
Sudden Cardiac Death
12 Citations (Scopus)

An algorithm for QT interval monitoring in neonatal intensive care units

Helfenbein, E. D., Ackerman, M. J., Rautaharju, P. M., Zhou, S. H., Gregg, R. E., Lindauer, J. M., Miller, D., Wang, J. J., Kresge, S. S., Babaeizadeh, S., Feild, D. Q. & Michaud, F. P., Nov 2007, In : Journal of Electrocardiology. 40, 6 SUPPL. 1

Research output: Contribution to journalArticle

Neonatal Intensive Care Units
Electrocardiography
Heart Rate
Pediatrics
Neonatal Intensive Care
5 Citations (Scopus)

An Association of Hippocampal Malformations and Sudden Death? We Need More Data

Ackerman, M. J., Andrew, T. A., Baker, A. M., Devinsky, O., Downs, J. C. U., Keens, T., Kuntz, J., Lin, P., Lear-Kaul, K. C., Reichard, R. & Robinson, D. A., Mar 26 2016, (Accepted/In press) In : Forensic Science, Medicine, and Pathology. p. 1-3 3 p.

Research output: Contribution to journalArticle

Sudden Cardiac Death
Sudden Death
Hippocampus
10 Citations (Scopus)

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

Chatterjee, D., Fatah, M., Akdis, D., Spears, D. A., Koopmann, T. T., Mittal, K., Rafiq, M. A., Cattanach, B. M., Zhao, Q., Healey, J. S., Ackerman, M. J., Bos, J. M., Sun, Y., Maynes, J. T., Brunckhorst, C., Medeiros-Domingo, A., Duru, F., Saguner, A. M. & Hamilton, R. M., Nov 21 2018, In : European Heart Journal. 39, 44, p. 3932-3944 13 p.

Research output: Contribution to journalArticle

Desmoglein 2
Arrhythmogenic Right Ventricular Dysplasia
Autoantibodies
Antibodies
Mutation
96 Citations (Scopus)

Anesthesia for patients with congenital long QT syndrome

Kies, S. J., Pabelick, C. M., Hurley, H. A., White, R. D. & Ackerman, M. J., Jan 2005, In : Anesthesiology. 102, 1, p. 204-210 7 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Torsades de Pointes
Anesthesia
Sudden Cardiac Death
Anesthetics
13 Citations (Scopus)
Long QT Syndrome
Sympathectomy
Anesthesia
Anesthetics
Premedication
36 Citations (Scopus)

Anesthetic management of patients with Brugada syndrome: A case series and literature review

Kloesel, B., Ackerman, M. J., Sprung, J., Narr, B. J. & Weingarten, T. N., Sep 2011, In : Canadian Journal of Anesthesia. 58, 9, p. 824-836 13 p.

Research output: Contribution to journalArticle

Brugada Syndrome
Anesthetics
Anesthesia
Propofol
Hyperkalemia
390 Citations (Scopus)

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

Kapplinger, J. D., Tester, D. J., Alders, M., Benito, B., Berthet, M., Brugada, J., Brugada, P., Fressart, V., Guerchicoff, A., Harris-Kerr, C., Kamakura, S., Kyndt, F., Koopmann, T. T., Miyamoto, Y., Pfeiffer, R., Pollevick, G. D., Probst, V., Zumhagen, S., Vatta, M., Towbin, J. A. & 9 others, Shimizu, W., Schulze-Bahr, E., Antzelevitch, C., Salisbury, B. A., Guicheney, P., Wilde, A. A. M., Brugada, R., Schott, J. J. & Ackerman, M. J., Jan 2010, In : Heart Rhythm. 7, 1, p. 33-46 14 p.

Research output: Contribution to journalArticle

Brugada Syndrome
Sodium Channels
Genetic Testing
Mutation
Healthy Volunteers
30 Citations (Scopus)

A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia

Tan, B. H., Iturralde-Torres, P., Medeiros-Domingo, A., Nava, S., Tester, D. J., Valdivia, C. R., Tusié-Luna, T., Ackerman, M. J. & Makielski, J. C., Dec 1 2007, In : Cardiovascular Research. 76, 3, p. 409-417 9 p.

Research output: Contribution to journalArticle

Sick Sinus Syndrome
Ventricular Tachycardia
Mutation
Phenotype
Penetrance
53 Citations (Scopus)

A novel disease gene for Brugada syndrome: Sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5

Ishikawa, T., Sato, A., Marcou, C. A., Tester, D. J., Ackerman, M. J., Crotti, L., Schwartz, P. J., On, Y. K., Park, J. E., Nakamura, K., Hiraoka, M., Nakazawa, K., Sakurada, H., Arimura, T., Makita, N. & Kimura, A., Dec 2012, In : Circulation: Arrhythmia and Electrophysiology. 5, 6, p. 1098-1107 10 p.

Research output: Contribution to journalArticle

Brugada Syndrome
Membrane Proteins
Mutation
Genes
Sarcoplasmic Reticulum
41 Citations (Scopus)

A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family

Ackerman, M. J., Schroeder, J. J., Berry, R., Schaid, D. J., Porter, C. B. J., Michels, V. V. & Thibodeau, S. N., Aug 1998, In : Pediatric Research. 44, 2, p. 148-153 6 p.

Research output: Contribution to journalArticle

Near Drowning
Long QT Syndrome
Mutation
Electrocardiography
Genotype
73 Citations (Scopus)

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Nav1.5 and Kv4.3 channel currents

Hu, D., Barajas-Martínez, H., Medeiros-Domingo, A., Crotti, L., Veltmann, C., Schimpf, R., Urrutia, J., Alday, A., Casis, O., Pfeiffer, R., Burashnikov, E., Caceres, G., Tester, D. J., Wolpert, C., Borggrefe, M., Schwartz, P., Ackerman, M. J. & Antzelevitch, C., May 2012, In : Heart Rhythm. 9, 5, p. 760-769 10 p.

Research output: Contribution to journalArticle

Brugada Syndrome
Sudden Infant Death
Sodium Channels
Immunoprecipitation
Exons
74 Citations (Scopus)

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine

Valdivia, C. R., Ackerman, M. J., Tester, D. J., Wada, T., McCormack, J., Ye, B. & Makielski, J. C., 2002, In : Cardiovascular Research. 55, 2, p. 279-289 11 p.

Research output: Contribution to journalArticle

Mexiletine
Cardiac Arrhythmias
Sodium Channels
Mutation
Sodium
28 Citations (Scopus)

A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood

Van Driest, S. L., Will, M. L., Atkins, D. L. & Ackerman, M. J., Nov 15 2002, In : American Journal of Cardiology. 90, 10, p. 1123-1127 5 p.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Sudden Cardiac Death
Mutation
Tropomyosin
Missense Mutation
1 Citation (Scopus)
Filamins
Mitral Valve Prolapse
Mothers
Exome
Ambulatory Monitoring
2 Citations (Scopus)
Monovalent Cations
L-Type Calcium Channels
Missense Mutation
Nifedipine
Bradycardia
41 Citations (Scopus)

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome

Limpitikul, W. B., Dick, I. E., Tester, D. J., Boczek, N. J., Limphong, P., Yang, W., Choi, M. H., Babich, J., Disilvestre, D., Kanter, R. J., Tomaselli, G. F., Ackerman, M. J. & Yue, D. T., Jan 6 2017, In : Circulation Research. 120, 1, p. 39-48 10 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Precision Medicine
Calmodulin
Induced Pluripotent Stem Cells
Clustered Regularly Interspaced Short Palindromic Repeats
1 Citation (Scopus)

Architectural T-Wave Analysis and Identification of On-Therapy Breakthrough Arrhythmic Risk in Type 1 and Type 2 Long-QT Syndrome

Sugrue, A., Rohatgi, R. K., Noseworthy, P., Kremen, V., Bos, J. M., Qiang, B., Sapir, Y., Attia, Z. I., Scott, C. G., Brady, P., Asirvatham, S. J., Friedman, P. A. & Ackerman, M. J., Nov 1 2017, In : Circulation. Arrhythmia and electrophysiology. 10, 11

Research output: Contribution to journalArticle

Romano-Ward Syndrome
Long QT Syndrome
Electrocardiography
Therapeutics
Gravitation
3 Citations (Scopus)
Hypertrophic Cardiomyopathy
Protein Biosynthesis
Genomics
Natural History
Longitudinal Studies
24 Citations (Scopus)

Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: Risk stratification of perinatal long-QT syndrome

Cuneo, B. F., Etheridge, S. P., Horigome, H., Sallee, D., Moon-Grady, A., Weng, H. Y., Ackerman, M. J. & Woodrow Benson, D., Oct 2013, In : Circulation: Arrhythmia and Electrophysiology. 6, 5, p. 946-951 6 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Cardiac Arrhythmias
Torsades de Pointes
Genotype
Phenotype
9 Citations (Scopus)

Arrhythmia risk in long QT syndrome: Beyond the disease-causative mutation

Giudicessi, J. R. & Ackerman, M. J., Aug 2013, In : Circulation: Cardiovascular Genetics. 6, 4, p. 313-316 4 p.

Research output: Contribution to journalArticle

KCNQ1 Potassium Channel
Long QT Syndrome
Ion Channels
Single Nucleotide Polymorphism
Cardiac Arrhythmias
11 Citations (Scopus)

Arrhythmogenic biophysical phenotype for SCN5A mutation S1787N depends upon splice variant background and intracellular acidosis

Hu, R. M., Tan, B. H., Tester, D. J., Song, C., He, Y., Dovat, S., Peterson, B. Z., Ackerman, M. J. & Makielski, J. C., Apr 29 2015, In : PLoS One. 10, 4, e0124921.

Research output: Contribution to journalArticle

acidosis
Acidosis
Protein Isoforms
Phenotype
mutation
18 Citations (Scopus)

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome

Gong, Q., Zhang, L., Moss, A. J., Vincent, G. M., Ackerman, M. J., Robinson, J. C., Jones, M. A., Tester, D. J. & Zhou, Z., Mar 2008, In : Journal of Molecular and Cellular Cardiology. 44, 3, p. 502-509 8 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Ether
RNA Splice Sites
Mutation
Introns
1 Citation (Scopus)

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance

Giudicessi, J. R., Lieve, K. V. V., Rohatgi, R. K., Koca, F., Tester, D. J., van der Werf, C., Martijn Bos, J., Wilde, A. A. M. & Ackerman, M. J., May 1 2019, In : Circulation. Genomic and precision medicine. 12, 5, p. e002510

Research output: Contribution to journalArticle

Phenotype
Genetic Testing
Multicenter Studies
Retrospective Studies
Guidelines