J. Towbin

J. Towbin, W. Dreyer, J. Jefferies, 2007, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

SECTION ON CARDIOLOGY AND CARDIAC SURGERY EXECUTIVE Oximetry Screening for Critical Congenital Heart Disease Endorsement of Health and Human Services Recommendation for Pulse

J. Towbin, S. Mital, W. Mahle, 2012 .

Genotype and severity of long QT syndrome.

J. Towbin, Z. Wang, H. Li, 2001, Archives of pathology & laboratory medicine.

New Mutations in the KVLQT 1 Potassium Channel That Cause Long-QT Syndrome

S. Priori, A. Moss, P. Schwartz, 1998 .

Molecular biology of arrhythmic syndromes

J. Towbin, M. Vatta, Hua Li, 2000, Current opinion in cardiology.

Left ventricular noncompaction in a family with lamin A/C gene mutation.

J. Towbin, J. Jefferies, J. Parent, 2015, Texas Heart Institute journal.

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

Michael J Ackerman, Stephan Willems, Silvia G Priori, 2011, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study.

H. Calkins, D. Bluemke, J. Towbin, 2009, Heart rhythm.

Cardiac electrical system involvement in Alström syndrome: uncommon causes of dilated cardiomyopathies

J. Towbin, S. Ware, R. Spicer, 2012 .

Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.

C Antzelevitch, J. Towbin, J. Brugada, 1999, Circulation research.

Young athletes: Preventing sudden death by adopting a modern screening approach? A critical review and the opening of a debate

J. Towbin, P. Brugada, R. Muthupillai, 2021, International journal of cardiology. Heart & vasculature.

Association of Left Ventricular Dilation at Listing for Heart Transplant With Postlisting and Early Posttransplant Mortality in Children With Dilated Cardiomyopathy

S. Colan, J. Towbin, D. Bernstein, 2009, Circulation. Heart failure.

Global, regional, and national incidence and mortality for HIV, tuberculosis, and malaria during 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013

Nobhojit Roy, Anders Larsson, Ivy Shiue, 2014, The Lancet.

Noncompaction Cardiomyopathy in Childhood

J. Towbin, K. Ryan, Jason F. Goldberg, 2019, Noncompaction Cardiomyopathy.

Arrhythmias and conduction disturbances in noncompaction cardiomyopathy

L. Jordaens, J. Towbin, 2018 .

How to effectively utilize genetic testing in the care of children with cardiomyopathies

W. Chung, J. Towbin, M. Russell, 2015 .

Left ventricular non-compaction cardiomyopathy

J. Towbin, J. Jefferies, A. Lorts, 2015, The Lancet.

90 – Ventricular Tachycardia in Noncompaction Cardiomyopathy

J. Towbin, 2014 .

Inherited cardiomyopathies.

J. Towbin, 2014, Circulation journal : official journal of the Japanese Circulation Society.

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.

G. Valle, J. Towbin, A. di Lenarda, 2003, Journal of the American College of Cardiology.

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

Gian Antonio Danieli, Andrea Nava, G. Danieli, 2005, Cardiovascular Research.

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

Michael J Ackerman, Xiaolei Xu, B. Gersh, 2006, Molecular genetics and metabolism.

Shared genetic causes of cardiac hypertrophy in children and adults.

Heidi L Rehm, Raju Kucherlapati, Hiroyuki Morita, 2008, The New England journal of medicine.

Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

G. Danieli, J. Towbin, G. Thiene, 2006, Circulation.

New revelations about the long-QT syndrome.

J. Towbin, 1995, The New England journal of medicine.

The incidence of pediatric cardiomyopathy in two regions of the United States.

E John Orav, Steven E Lipshultz, S. Colan, 2003, The New England journal of medicine.

Cardiac Biomarkers in Pediatric Cardiomyopathy: Study Design and Recruitment Results from the Pediatric Cardiomyopathy Registry.

S. Colan, J. Towbin, L. Sleeper, 2019, Progress in pediatric cardiology.

No Obesity Paradox in Pediatric Patients With Dilated Cardiomyopathy.

S. Colan, J. Towbin, J. Wilkinson, 2018, JACC. Heart failure.

Future research directions in pediatric cardiomyopathy

W. Chung, J. Towbin, J. Wilkinson, 2016 .

Genetics of congenital and acquired cardiovascular disease

J. Towbin, J. Jefferies, Hugo R Martinez, 2014 .

Incidence of and Risk Factors for Sudden Cardiac Death in Children With Dilated Cardiomyopathy

S. Colan, J. Towbin, L. Sleeper, 2012 .

Conduction Abnormalities in Pediatric Patients With Restrictive Cardiomyopathy

J. Towbin, J. Jefferies, A. Lorts, 2011, Circulation. Heart failure.

Outcomes of Restrictive Cardiomyopathy in Childhood and the Influence of Phenotype: A Report From the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2012, Circulation.

Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry.

S. Colan, J. Towbin, L. Sleeper, 2012, American heart journal.

Early Predictors of Survival to and After Heart Transplantation in Children With Dilated Cardiomyopathy

S. Colan, J. Towbin, S. Lipshultz, 2012, Circulation.

Dilated Cardiomyopathy : Results From the Pediatric Cardiomyopathy Registry Competing Risks for Death and Cardiac Transplantation in Children

S. Colan, J. Towbin, L. Sleeper, 2011 .

The impact of heart failure severity at time of listing for cardiac transplantation on survival in pediatric cardiomyopathy.

J. Towbin, E. Orav, J. Wilkinson, 2011, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Treating Children with Idiopathic Dilated Cardiomyopathy (from the Pediatric Cardiomyopathy Registry) in 40% of Children with Symptomatic Idiopathic Dilated Cardiomyopathy (idc), Medical Therapy Fails within 2 Years of Diagnosis. Strong Evidence-based Therapies Are Not Available for These Children,

S. Colan, J. Towbin, L. Sleeper, 2022 .

Frequency of cardiac death in children with idiopathic dilated cardiomyopathy.

J. Towbin, R. Friedman, W. Dreyer, 2009, The American journal of cardiology.

Factors Associated With Establishing a Causal Diagnosis for Children With Cardiomyopathy

S. Colan, J. Towbin, L. Sleeper, 2006, Pediatrics.

Dilated Cardiomyopathy: A Tale of Cytoskeletal Proteins and Beyond

J. Towbin, N. Bowles, 2006, Journal of cardiovascular electrophysiology.

Viral genomic detection and outcome in myocarditis.

J. Towbin, N. Bowles, K. Bowles, 2005, Heart failure clinics.

Genetics of neonatal cardiomyopathy.

J. Towbin, S. Lipshultz, 1999, Current opinion in cardiology.

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.

G. Danieli, J. Towbin, G. Thiene, 2002, American journal of human genetics.

The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

J. Towbin, N. Bowles, F. Marcus, 2002, Journal of the American College of Cardiology.

The failing heart

J. Towbin, N. Bowles, 2002, Nature.

Cardio-Skeletal Muscle Disease Associated With Syndromes

J. Towbin, Z. Khuchua, 2017 .

Medical Therapy Leads to Favorable Remodeling in Left Ventricular Non-compaction Cardiomyopathy: Dilated Phenotype

J. Towbin, J. Jefferies, J. Parent, 2016, Pediatric Cardiology.

Brugada syndrome: 1992-2002: a historical perspective.

J. Towbin, J. Brugada, R. Brugada, 2003, Journal of the American College of Cardiology.

Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome

B. Kerem, J. Blangero, J. Towbin, 1998, Human mutation.

Left Ventricular Noncompaction and Vigorous Physical Activity: What Is the Connection?

J. Towbin, G. Beasley, 2020, Journal of the American College of Cardiology.

Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism.

J. Towbin, J. Jefferies, 2017, Circulation research.

Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.

J. Towbin, P. Elliott, N. Bowles, 2004, Molecular genetics and metabolism.

Genetics and Genomics of Arrhythmias

J. Towbin, M. Vatta, 2010 .

Inflammatory cardiomyopathy: there is a specific matrix destruction in the course of the disease.

J. Towbin, 2006, Ernst Schering Research Foundation workshop.

Genetic Vascular Embryology

J. Belmont, J. Towbin, 2002 .

Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.

M. Desai, J. Towbin, B. Maron, 2022, Journal of the American College of Cardiology.

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

J. Towbin, M. Vatta, N. Bowles, 2000, The Journal of clinical investigation.

The incidence of pediatric cardiomyopathy in two regions of the United States

J. Towbin, L. Sleeper, S. Lipshultz, 2003 .

Clinical Features of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated With Mutations in Plakophilin-2

S. Russell, H. Calkins, D. Bluemke, 2006, Circulation.

Pediatric and adult dilated cardiomyopathy are distinguished by distinct biomarker profiles

S. Colan, J. Towbin, J. Wilkinson, 2021, Pediatric Research.

Dilation of the aortic root in mitochondrial disease patients.

J. Belmont, J. Towbin, N. Brunetti‐Pierri, 2011, Molecular genetics and metabolism.

Genetics, molecular mechanisms and management of long QT syndrome.

J. Towbin, Q. Wang, J A Towbin, 1998, Annals of medicine.

Prevalence and Progression of Late Gadolinium Enhancement in Children and Adolescents With Hypertrophic Cardiomyopathy

Amit R. Patel, L. Mestroni, E. Ashley, 2018, Circulation.

Familial Left Ventricular Non-Compaction Is Associated With a Rare p.V407I Variant in Bone Morphogenetic Protein 10.

J. Towbin, Lu Lu, Kazuyoshi Saito, 2019, Circulation journal : official journal of the Japanese Circulation Society.

Fkbp 1 a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch 1 activity

R. Schwartz, J. Towbin, Weidong Yong, 2013 .

Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity

R. Schwartz, J. Towbin, Weidong Yong, 2013, Development.

α-1-Syntrophin Mutation and the Long-QT Syndrome: A Disease of Sodium Channel Disruption

A. Moss, J. Towbin, W. Shimizu, 2008, Circulation. Arrhythmia and electrophysiology.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

J. Towbin, I. Nonaka, Y. Hayashi, 2017, American journal of human genetics.

ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene.

J. Towbin, M. Vatta, N. Bowles, 2009, Journal of the American College of Cardiology.

Diagnosis and Treatment of Myocarditis: The Role of Adenovirus Infection in Cardiomyopathy and Heart Failure

J. Towbin, N. Bowles, 2003 .

Mechanical circulatory support as a bridge to combined dual organ transplantation in children.

C. Fraser, J. Towbin, W. Dreyer, 2006, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome

J. Towbin, D. Khoury, N. Bowles, 2006, Journal of Medical Genetics.

Molecular genetics of heterotaxy syndromes

J. Belmont, J. Towbin, S. Ware, 2004, Current opinion in cardiology.

Genetics and Cardiac Arrhythmia Syndromes

J. Towbin, M. Vatta, N. Bowles, 2012 .

A Genetic Basis for Cardiac Arrhythmias

J. Towbin, M. Vatta, N. Bowles, 2003 .

Cardiomyopathy and heart transplantation in children.

J. Towbin, 2002, Current opinion in cardiology.

Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry.

S. Colan, J. Towbin, L. Sleeper, 2008, American heart journal.

Myocardial pro-inflammatory cytokine expression and cellular rejection in pediatric heart transplant recipients.

J. Towbin, W. Dreyer, N. Bowles, 2008, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

July 1 , 2014 Develop and Expand Registries and Databases

B. Byrne, L. Leinwand, J. Towbin, 2014 .

Challenges and Opportunities in Pediatric Heart Failure and Transplantation 79

B. Byrne, L. Leinwand, J. Towbin, 2014 .

New Mechanistic and Therapeutic Targets for Pediatric Heart Failure: Report From a National Heart, Lung, and Blood Institute Working Group

B. Byrne, L. Leinwand, J. Towbin, 2014, Circulation.

Accelerated cardiac remodeling in desmoplakin transgenic mice in response to endurance exercise is associated with perturbed Wnt/β-catenin signaling.

J. Towbin, S. Turdi, H. Osińska, 2016, American journal of physiology. Heart and circulatory physiology.

Running Head : Exercise Training and Arrhythmogenic Cardiomyopathy

J. Towbin, S. Turdi, Rahul Jain, 2015 .

Exercise Training in Cardiovascular Disease : Mechanisms and Outcomes Accelerated cardiac remodeling in desmoplakin transgenic mice in response to endurance exercise is associated with perturbed Wnt /-catenin signaling

J. Towbin, S. Turdi, H. Osińska, 2015 .

Desmosomal gene variants in patients with "possible ARVC".

J. Towbin, 2011, Heart rhythm.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a multidisciplinary study: design and protocol.

H. Calkins, A. Moss, J. Towbin, 2003, Circulation.

Prevalence, predictors, and outcomes of cardiorenal syndrome in children with dilated cardiomyopathy: a report from the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2015, Pediatric Nephrology.

PTPN11 Mutation Associated with Aortic Dilation and Hypertrophic Cardiomyopathy in a Pediatric Patient with Noonan Syndrome

J. Belmont, J. Towbin, W. Craigen, 2009, Pediatric Cardiology.

Global, regional, and national levels of maternal mortality, 1990â€“2015: a systematic analysis for the Global Burden of Disease Study 2015

Eyal Oren, Qingyang Xiao, Joshua A. Salomon, 2016 .

CHAPTER 62 – Genetics and Genomics of Arrhythmias

J. Towbin, M. Vatta, 2009 .

Genetic Modulation of Brugada Syndrome by a Common Polymorphism

H. Huikuri, J. Towbin, J. Brugada, 2009, Journal of cardiovascular electrophysiology.

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.

J. Towbin, Kazuhiro Watanabe, N. Bowles, 2008, Molecular genetics and metabolism.

Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

G. Lanfranchi, M. Zaccolo, G. Danieli, 2007, BMC Medical Genetics.

Predicting outcome after listing for heart transplantation in children: comparison of Kaplan-Meier and parametric competing risk analysis. Pediatric Heart Transplant Study Group.

J. Towbin, D. Bernstein, C. Canter, 1997, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Molecular determinants of left and right outflow tract obstruction.

J. Belmont, J. Towbin, 2000, American journal of medical genetics.

Mutations in Conserved Amino Acids in the KCNQ1 Channel and Risk of Cardiac Events in Type‐1 Long‐QT Syndrome

A. Moss, J. Towbin, W. Zareba, 2009, Journal of cardiovascular electrophysiology.

The landscape of cardiovascular care in pediatric cancer patients and survivors: a survey by the ACC Pediatric Cardio-Oncology Work Group

J. Towbin, J. Glickstein, S. Mital, 2019, Cardio-Oncology.

S. Colan, J. Towbin, L. Sleeper, 2016, The Journal of pediatrics.

Global, regional, and national levels and causes of maternal mortality during 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013

Nobhojit Roy, Anders Larsson, Ivy Shiue, 2014, The Lancet.

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life- Threatening Events: Implications for Mutation-Specific Response to Beta- Blocker Therapy in Type-1 Long QT Syndrome Running title: Barsheshet et al.; Mutations in Cytoplasmic Loops of KCNQ1 Channel

Derick R. Peterson, E. Kaufman, A. Moss, 2012 .

Clinical Implications for Affected Parents and Siblings of Probands With Long-QT Syndrome

S. Priori, A. Moss, P. Schwartz, 2001, Circulation.

Prolongation of the QT interval and the sudden infant death syndrome.

J. Towbin, R. Friedman, 1998, New England Journal of Medicine.

AHA Policy Statement Genetics and Cardiovascular Disease A Policy Statement From the American Heart Association

E. Ashley, P. Ellinor, C. Caleshu, 2012 .

Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals.

Michael J. Ackerman, Pyotr G. Platonov, Wojciech Zareba, 2011, Journal of the American College of Cardiology.

Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome.

E. Kaufman, A. Moss, J. Towbin, 2013, Heart rhythm.

Novel mutations in domain I of SCN5A cause Brugada syndrome.

J. Towbin, J. Brugada, R. Brugada, 2002, Molecular genetics and metabolism.

Survival Without Cardiac Transplantation Among Children With Dilated Cardiomyopathy.

S. Colan, J. Towbin, J. Wilkinson, 2017, Journal of the American College of Cardiology.

Recovery of echocardiographic function in children with idiopathic dilated cardiomyopathy: results from the pediatric cardiomyopathy registry.

S. Colan, J. Towbin, L. Sleeper, 2014, Journal of the American College of Cardiology.

Cardiomyopathy Phenotypes and Outcomes for Children With Left Ventricular Myocardial Noncompaction: Results From the Pediatric Cardiomyopathy Registry.

S. Colan, J. Towbin, L. Sleeper, 2015, Journal of cardiac failure.

Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2013, The Lancet.

Myocardial deformation abnormalities in pediatric hypertrophic cardiomyopathy: are all etiologies identical?

J. Towbin, P. Claus, J. D’hooge, 2008, European journal of echocardiography : the journal of the Working Group on Echocardiography of the European Society of Cardiology.

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

J. Belmont, J. Towbin, M. Muenke, 2008, American journal of human genetics.

Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes

G. Danieli, J. Towbin, G. Thiene, 2003, European Journal of Human Genetics.

Evaluation of the cardiac actin gene in Doberman Pinschers with dilated cardiomyopathy.

J. Towbin, M. Miller, K. Meurs, 2001, American journal of veterinary research.

Nine polymorphisms within the head and hinge region of the feline cardiac beta-myosin heavy chain gene.

E. Spangler, J. Towbin, J. Womack, 2000, Animal genetics.

Restrictive cardiomyopathies in childhood. Etiologies and natural history.

J. Towbin, G. Rosenthal, J. T. Bricker, 1997, Texas Heart Institute journal.

Peri-operative Care of the Heart ransplant Recipient hair :

A. Kfoury, J. Towbin, F. Dobbels, 2022 .

Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.

Michael J Ackerman, Barry J Maron, J. Towbin, 2004, Circulation.

Treatment of Hypertrophic Cardiomyopathy

M. Link, B. Gersh, W. Stevenson, 2011 .

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

J. Coselli, S. Lemaire, J. Towbin, 2010, European journal of medical genetics.

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

P. Byers, J. Towbin, D. Milewicz, 1996, American journal of medical genetics.

FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly

J. Towbin, D. Milewicz, H. Northrup, 2004, Journal of Medical Genetics.

Left Atrial structure and function in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy

S. Colan, D. Bluemke, J. Towbin, 2017, Journal of Cardiovascular Magnetic Resonance.

Effect of donor-recipient size mismatch on left ventricular remodeling after pediatric orthotopic heart transplantation.

J. Towbin, T. Geva, R. Gajarski, 1995, The American journal of cardiology.

Challenges and Opportunities in Pediatric Heart Failure and Transplantation New Mechanistic and Therapeutic Targets for Pediatric Heart Failure a National Heart, Lung, and Blood Institute Group

B. Byrne, L. Leinwand, J. Towbin, 2014 .

Postinfarction ventricular arrhythmias in children.

J. Towbin, F. Cecchin, C. Johnsrude, 1995, American heart journal.

Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation

J. Towbin, D. Nelson, P. Manning, 2012, Pediatric Cardiology.

GSK3- and PRMT-1–dependent modifications of desmoplakin control desmoplakin–cytoskeleton dynamics

J. Shabanowitz, D. Hunt, J. Towbin, 2015, The Journal of cell biology.

Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.

J. Towbin, S. Sommer, Jinong Feng, 2002, Molecular genetics and metabolism.

Identifying modifier genes for hypertrophic cardiomyopathy.

Robert W. Williams, J. Towbin, Lu Lu, 2020, Journal of molecular and cellular cardiology.

Prevalence, morbidity, and mortality of heart failure-related hospitalizations in children in the United States: a population-based study.

J. Towbin, B. Bozkurt, W. Dreyer, 2012, Journal of cardiac failure.

Clinical Investigations Prevalence, Morbidity, and Mortality of Heart FailureeRelated Hospitalizations in Children in the United States: A Population-Based Study

J. Towbin, B. Bozkurt, W. Dreyer, 2012 .

Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.

J. Towbin, J. Wansapura, Kazuyoshi Saito, 2014, Journal of the American College of Cardiology.

Short-term mechanical unloading and reverse remodeling of failing hearts in children.

C. Fraser, J. Towbin, M. Vatta, 2010, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance-device therapy

J. Towbin, G. Noon, M. Entman, 2002, The Lancet.

olecular Normalization of Dystrophin n the Failing Left and Right Ventricle of atients Treated With Either Pulsatile or ontinuous Flow-Type Ventricular Assist Devices

J. Towbin, M. Entman, N. Bowles, 2016 .

Molecular normalization of dystrophin in the failing left and right ventricle of patients treated with either pulsatile or continuous flow-type ventricular assist devices.

J. Towbin, G. Noon, M. Entman, 2004, Journal of the American College of Cardiology.

(cid:1) 2-Adrenergic Receptor Genetic Variants and Risk of Sudden Cardiac Death Epidemiology

T. Lumley, T. Rea, L. Kuller, 2006 .

Association of viral genome with graft loss in children after cardiac transplantation.

J. Towbin, G. Shirali, N. Bowles, 2001, The New England journal of medicine.

Nuclear Genes Causing Mitochondrial Cardiomyopathy

J. Towbin, S. Ware, 2013 .

Safety and efficacy of nesiritide in pediatric heart failure.

J. Towbin, W. Dreyer, C. McMahon, 2007, Journal of cardiac failure.

Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

Jason T. Su, J. Towbin, R. Ortíz-López, 1997, Circulation.

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

L. Mestroni, J. Towbin, M. Lovell, 2007, Journal of Human Genetics.

Pediatric Cardiomyopathy Registry Idiopathic Dilated Cardiomyopathy in Childhood: An Outcomes Study from the Ventricular Remodeling and Survival are More Favorable for Myocarditis Than For

S. Colan, J. Towbin, L. Sleeper, 2010 .

Ventricular Remodeling and Survival Are More Favorable for Myocarditis Than For Idiopathic Dilated Cardiomyopathy in Childhood: An Outcomes Study From the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2010, Circulation. Heart failure.

Diagnosis and Management of Myocarditis in Children

J. Towbin, L. Cooper, L. Grosse-Wortmann, 2021, Circulation.

Outpatient continuous parenteral inotropic therapy as bridge to transplantation in children with advanced heart failure.

J. Towbin, W. Dreyer, J. Price, 2006, Journal of cardiac failure.

High-density lipoprotein cholesterol levels and risk of death in chronic heart failure patients referred for heart transplant evaluation

J. Towbin, W. Dreyer, J. Heinle, 2010 .

A Prospective Evaluation of Nesiritide in the Treatment of Pediatric Heart Failure

J. Towbin, W. Dreyer, C. McMahon, 2006, Pediatric Cardiology.

Viral epidemiologic shift in inflammatory heart disease: the increasing involvement of parvovirus B19 in the myocardium of pediatric cardiac transplant patients.

J. Towbin, W. Dreyer, N. Bowles, 2010, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Viral endomyocardial infection is an independent predictor and potentially treatable risk factor for graft loss and coronary vasculopathy in pediatric cardiac transplant recipients.

J. Towbin, W. Dreyer, N. Bowles, 2010, Journal of the American College of Cardiology.

Detection of adenoviral genome in the myocardium of adult patients with idiopathic left ventricular dysfunction.

J. Towbin, N. Bowles, H. Schultheiss, 1999, Circulation.

A Role for Toll-like Receptor 3 Variants in Host Susceptibility to Enteroviral Myocarditis and Dilated Cardiomyopathy*

J. Towbin, C. Gorbea, N. Bowles, 2010, The Journal of Biological Chemistry.

Vascular Genetical Embryology

J. Towbin, 2015 .

FasL expression in cardiomyocytes activates the ERK1/2 pathway, leading to dilated cardiomyopathy and advanced heart failure.

J. Towbin, S. Turdi, A. Huby, 2016, Clinical science.

The International Society of Heart and Lung Transplantation Guidelines for the care of heart transplant recipients.

Clive Lewis, Michael Burch, Abdallah Kfoury, 2010, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Heart Failure in Children and Young Adults

J. Towbin, A. Chang, 2005 .

Long-term follow-up of arrhythmias in pediatric orthotopic heart transplant recipients: incidence and correlation with rejection.

J. Towbin, R. Friedman, W. Dreyer, 2003, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Biomarkers of cardiovascular stress and fibrosis in preclinical hypertrophic cardiomyopathy

L. Mestroni, S. Colan, J. Towbin, 2017, Open Heart.

Administration of a Large Nesiritide Bolus Dose in a Pediatric Patient: Case Report and Review of Nesiritide Use in Pediatrics

J. Towbin, W. Dreyer, J. Jefferies, 2006, Pharmacotherapy.

Nesiritide Therapy in a Term Neonate with Renal Disease

J. Towbin, J. Jefferies, J. Rossano, 2006, Pharmacotherapy.

Molecular genetic aspects of cardiomyopathy.

J. Towbin, 1993, Biochemical medicine and metabolic biology.

Genomic characterization of the human peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor gene: assessment of its role in familial dilated cardiomyopathy

J. Towbin, N. Bowles, S. Abraham, 1999, Human Genetics.

Cardiomyopathy in Muscular Dystrophy Workshop 28–30 September 2003, Tucson, Arizona

J. Towbin, E. McNally, 2004, Neuromuscular Disorders.

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

L. Kunkel, J. Towbin, M. Koenig, 1989, The Journal of clinical investigation.

Progressive Reduction in Right Ventricular Contractile Function Attributable to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy

J. Towbin, Ryan D. Sullivan, E. Purevjav, 2022, Circulation.

Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians.

J. Towbin, F. Marcus, S. Edson, 2013, Journal of the American College of Cardiology.

Analysis of 23 Families

P. Schwartz, J. Towbin, M. Lehmann, 2005 .

Molecular genetics of left ventricular dysfunction.

J. Towbin, N. Bowles, 2001, Current molecular medicine.

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

J. Belmont, H. Zentgraf, J. Towbin, 2011, Nature Genetics.

Genetic abnormalities responsible for dilated cardiomyopathy

J. Towbin, N. Bowles, 2000, Current cardiology reports.

Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease

J. Belmont, J. Towbin, S. Fernbach, 2004, Pediatrics.

Mediators in HIV-associated cardiovascular disease: a focus on cytokines and genes.

J. Towbin, S. Lipshultz, N. Bowles, 2003, AIDS.

The Genetic Dissection of Ace2 Expression Variation in the Heart of Murine Genetic Reference Population

J. Towbin, Lu Lu, Y. Cui, 2020, Frontiers in Cardiovascular Medicine.

Heart transplants in pediatric patients: viral infection as a loss predictor.

J. Towbin, S. Ware, J. Jefferies, 2010, Future cardiology.

The Significant Arrhythmia and Cardiomyopathy Burden of Lamin A/C Mutations.

J. Towbin, M. Taylor, 2016, Journal of the American College of Cardiology.

Reply: Pregnancy in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

J. Towbin, F. Marcus, S. Edson, 2013, Journal of the American College of Cardiology.

The mystery of arrhythmogenic right ventricular dysplasia/cardiomyopathy: from observation to mechanistic explanation.

J. Towbin, F. Marcus, 2006, Circulation.

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

S. Scherer, H. Calkins, G. Danieli, 2010, Journal of the American College of Cardiology.

Transgenic Animal Models

J. Towbin, M. Vatta, Zhao Yang, 2007 .

Boxer Dogs : A New Animal Model of Human Disease Arrhythmogenic Right Ventricular Cardiomyopathy Causing Sudden Cardiac Death in

J. Towbin, B. Maron, G. Thiene, 2004 .

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.

J. Towbin, N. Bowles, Ryan M David, 2005, Human molecular genetics.

Chapter 3 Cardiac Ankyrin Repeat Protein Gene ( ANKRD 1 ) Mutations in Hypertrophic Cardiomyopathy

J. Towbin, M. Ackerman, T. Arimura, 2010 .

The Efficacy of Mitral Valve Surgery in Children with Dilated Cardiomyopathy and Severe Mitral Regurgitation

C. Fraser, J. Towbin, W. Dreyer, 2007, Pediatric Cardiology.

Concurrent Use of Calcium Chloride and Arginine Vasopressin Infusions in Pediatric Patients with Acute Cardiocirculatory Failure

J. Towbin, Joseph Krebs, Karan B. Karki, 2019, Pediatric Cardiology.

Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy

J. Towbin, J. Jefferies, J. Parent, 2016, Pediatric Cardiology.

Intermediate follow-up of pediatric heart transplant recipients with elevated pulmonary vascular resistance index.

J. Towbin, B. Radovancević, O. Frazier, 1994, Journal of the American College of Cardiology.

Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy.

J. Towbin, E. Smith, S. Denfield, 2000, Circulation.

Assessment of large copy number variants in patients with apparently isolated congenital left‐sided cardiac lesions reveals clinically relevant genomic events

Mahshid S. Azamian, J. Belmont, J. Towbin, 2017, American journal of medical genetics. Part A.

Pediatric and adult dilated cardiomyopathy are distinguished by distinct biomarker profiles

S. Colan, J. Towbin, J. Wilkinson, 2021, Pediatric Research.

Clinical Presentation and Outcomes by Sex in Arrhythmogenic Right Ventricular Cardiomyopathy: Findings from the North American ARVC Registry

M. Link, H. Calkins, J. Towbin, 2016, Journal of cardiovascular electrophysiology.

Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults.

J. Towbin, N. Bowles, J. Hare, 2003, Journal of the American College of Cardiology.

Myopathic Cardiac Genotypes Increase Risk for Myocarditis

J. Towbin, B. Gelb, K. Klingel, 2021, JACC. Basic to translational science.

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria

Wojciech Zareba, Hugh Calkins, David A Bluemke, 2010, European heart journal.

Arrhythmogenic right ventricular cardiomyopathy: a 'final common pathway' that defines clinical phenotype.

J. Towbin, M. Vatta, F. Marcus, 2006, European heart journal.

The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study

Theodore P Abraham, E John Orav, David A Bluemke, 2017, JAMA cardiology.

Myocardial infarction, viral infection, and the cytoskeleton final common pathways of a common disease?

J. Towbin, M. Vatta, 2007, Journal of the American College of Cardiology.

Possible Causative or Contributing Role of Viruses

J. Towbin, G. Thiene, E. Carturan, 2007 .

Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging.

B. Wong, J. Towbin, S. Ware, 2015, The American journal of cardiology.

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.

J. Towbin, S. Sommer, Jinong Feng, 2002, Journal of the American College of Cardiology.

Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center

J. Towbin, W. Dreyer, J. Jefferies, 2013, Circulation.

Beta2-adrenergic receptor genetic variants and risk of sudden cardiac death.

T. Lumley, T. Rea, L. Kuller, 2006, Circulation.

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.

J. Towbin, F. Scaglia, J. Jefferies, 2010, Molecular genetics and metabolism.

Identification of new markers in Xp21 between DXS28 (C7) and DMD.

A. Ballabio, K. Worley, J. Towbin, 1992, Genomics.

Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex with Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy.

L. Mestroni, J. Towbin, L. Sullivan, 2020, Circulation Genomic and Precision Medicine.

Global, regional, and national age-sex specific mortality for 264 causes of death, 1980–2016: a systematic analysis for the Global Burden of Disease Study 2016

Mohammad Hossein Khosravi, Dan J Stein, David L. Smith, 2017, Lancet.

Familial restrictive cardiomyopathy caused by a missense mutation in the desmin gene: possible role of apoptosis in disease pathogenesis

J. Towbin, M. Vatta, Y. Capetanaki, 2002 .

Value of Electrocardiographic Parameters and Ajmaline Test in the Diagnosis of Brugada Syndrome Caused by SCN5A Mutations

J. Towbin, J. Brugada, R. Brugada, 2004, Circulation.

DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.

J. Towbin, E. McCabe, W. Seltzer, 1990, Genomics.

The Brugada Numbers (reply to letter)

R. Hauer, S. Priori, J. Towbin, 2003 .

Pediatric Primary Dilated Cardiomyopathy Gene Testing and Variant Reclassification: Does It Matter?

J. Towbin, 2020, Journal of the American Heart Association.

Malonyl Coenzyme A Decarboxylase Deficiency: Early Dietary Restriction and Time Course of Cardiomyopathy

J. Towbin, N. Leslie, R. Spicer, 2012, Pediatrics.

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.

J. Towbin, M. Vatta, T. Arimura, 2009, Cardiovascular research.

Left Ventricular Noncompaction Cardiomyopathy in Association with Trisomy 13

J. Towbin, C. McMahon, A. Chang, 2005, Pediatric Cardiology.

Sudden Death and Cardiovascular Collapse in Children With Restrictive Cardiomyopathy

J. Towbin, E. Smith, S. Denfield, 2000 .

Scarring in the heart--a reversible phenomenon?

J. Towbin, 2007, The New England journal of medicine.

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

A. Moss, J. Towbin, W. Zareba, 2002, Molecular genetics and metabolism.

Assessment of the Cylex ImmuKnow cell function assay in pediatric heart transplant patients.

J. Towbin, W. Dreyer, J. Jefferies, 2008, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Concentrations of brain natriuretic peptide in the plasma predicts outcomes of treatment of children with decompensated heart failure admitted to the Intensive Care unit

J. Towbin, W. Dreyer, J. Jefferies, 2007, Cardiology in the Young.

X-linked dilated cardiomyopathy.

J. Towbin, R. Ortíz-López, 1994, The New England journal of medicine.

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

J. Belmont, J. Towbin, S. Lalani, 2003, American journal of medical genetics. Part A.

Ion channel dysfunction associated with arrhythmia, ventricular noncompaction, and mitral valve prolapse: a new overlapping phenotype.

J. Towbin, 2014, Journal of the American College of Cardiology.

A woman with incidental findings of ventricular aneurysms and a desmosomal cardiomyopathy.

J. Towbin, F. Marcus, S. Ly, 2008, Heart rhythm.

Left ventricular noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers.

J. Towbin, M. Taylor, J. Jefferies, 2015, Journal of cardiology cases.

Genetics of brugada, long QT, and arrhythmogenic right ventricular dysplasia syndromes.

J. Towbin, M. Vatta, Hua Li, 2000, Journal of electrocardiology.

Emerging targets in the long QT syndromes and Brugada syndrome

J. Towbin, M. Vatta, N. Bowles, 1999 .

Disruption-1-Syntrophin Mutation and the Long-QT Syndrome : A Disease of Sodium Channel

A. Moss, J. Towbin, W. Shimizu, 2008 .

Proposed diagnostic criteria for the Brugada syndrome.

R. Hauer, S. Priori, J. Towbin, 2002, European heart journal.

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.

J. Towbin, Rui Chen, N. Bowles, 2002, Molecular genetics and metabolism.

Mutation screening for the genes causing cardiac arrhythmias.

J. Towbin, 2006, Methods in molecular medicine.

Clinical, Genetic, and Electrophysiologic Characteristics of a New Pas‐Domain HERG Mutation (M124R) Causing Long QT Syndrome

B. Kerem, J. Towbin, B. Attali, 2005, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

Location of Mutation in the KCNQ1 and Phenotypic Presentation of Long QT Syndrome

E. Kaufman, S. Priori, A. Moss, 2003, Journal of cardiovascular electrophysiology.

Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome.

S. Priori, K. Sunagawa, J. Towbin, 2003, Journal of the American College of Cardiology.

Variable Expression of Long QT Syndrome Among Gene Carriers from Families with Five Different HERG Mutations

B. Kerem, E. Kaufman, S. Priori, 2001, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

Genotype and severity of long QT syndrome.

J. Towbin, Zhiqing Wang, Hua Li, 2001, Drug metabolism and disposition: the biological fate of chemicals.

Genotype and severity of long QT syndrome.

J. Towbin, Z. Wang, H. Li, 2001, Archives of pathology & laboratory medicine.

Current Concepts in Long QT Syndrome

J. Towbin, H. Li, J. Fuentes-Garcia, 2000, Pediatric Cardiology.

Mutations in KCNE1 in long QT syndrome (LQTS): insights into mechanism of LQTS and drug sensitivity?

J. Towbin, M. Vatta, 2006, Heart rhythm.

Genotype-Phenotype Correlation in the Long-QT Syndrome

G. Breithardt, S. Priori, A. Moss, 2001 .

The molecular basis of long QT syndrome and prospects for therapy.

J. Towbin, N. Bowles, Q. Wang, 1998, Molecular medicine today.

E. Kaufman, A. Moss, J. Towbin, 2012 .

Cardiac sodium channel gene mutations and sudden infant death syndrome: confirmation of proof of concept?

J. Towbin, M. Ackerman, M. Ackerman, 2001, Circulation.

Ventricular Tachycardia or Conduction Disease: What is the Mechanism of Death Associated with SCN5A?

J. Towbin, 2001, Journal of cardiovascular electrophysiology.

Genetic heterogeneity in familial dilated cardiomyopathy.

J. Towbin, R. Roberts, L. Bachinski, 1995, Biochemical and molecular medicine.

Arrhythmogenic Right Ventricular Cardiomyopathy: A Paradigm of Overlapping Disorders

J. Towbin, 2008, Annals of Noninvasive Electrocardiology.

A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.

J. Towbin, M. Vatta, Z. Li, 2009, Heart rhythm.

Familial ventricular arrhythmias in boxers.

Matthew W. Miller, J. Towbin, M. Miller, 1999, Journal of veterinary internal medicine.

Case 5 Familial Right Ventricular Dysplasia (Cardiomyopathy)

J. Towbin, B. Radovancević, O. Frazier, 1995 .

Differentiating anomalous left main coronary artery originating from the pulmonary artery in infants from myocarditis and dilated cardiomyopathy by electrocardiogram.

J. Towbin, R. Friedman, F. Cecchin, 1995, The American journal of cardiology.

Novel use of cangrelor in pediatrics: A pilot cohort study demonstrating use in ventricular assist devices.

J. Towbin, U. Boston, Hugo R Martinez, 2020, Artificial organs.

Genetic aspects of dilated cardiomyopathy

J. Towbin, R. Ortíz-López, K. R. Schultz, 1996 .

Erratum: Left ventricular non-compaction cardiomyopathy in children: Characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxation (Heart (2007) 93 (676-681))

J. Towbin, W. Dreyer, S. Nagueh, 2007 .

Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

J. Towbin, R. Hinton, S. Ware, 2012, Journal of cardiac failure.

Risk factors and mode of death in isolated hypertrophic cardiomyopathy in children.

J. Towbin, W. Dreyer, J. Jefferies, 2009, Journal of the American College of Cardiology.

Intrafamilial variability of noncompaction of the ventricular myocardium.

J. Towbin, R. Gilkeson, B. Hoit, 2006, American heart journal.

Severe Ostial Saphenous Vein Graft Disease Leading to Acute Coronary Syndromes After Proximal Aorto-Saphenous Anastomoses With The Symmetry Bypass Connector Device

J. Towbin, M. Vatta, N. Bowles, 2016 .

Left Ventricular Noncompaction Suggests Myopathy

J. Towbin, S. Fernbach, W. Dreyer, 2004 .

Sarcoglycan, the heart, and skeletal muscles: new treatment, old drug?

J. Towbin, N. Bowles, 2001, The Journal of clinical investigation.

Intrauterine adenoviral myocarditis presenting as nonimmune hydrops fetalis: diagnosis by polymerase chain reaction

J. Towbin, K. Moise, Ameeta B. Martin, 1994, The Pediatric infectious disease journal.

Variable phenotype of long QT syndrome patients with the same genetic defect

S. Priori, P. Schwartz, J. Towbin, 1998 .

Provocation testing in inherited arrhythmia disorders: can we be more specific?

J. Towbin, R. Friedman, 2005, Heart rhythm.

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

S. Priori, A. Moss, P. Schwartz, 1999, Circulation.

and man Developmental anatomy of the heart: a tale of mice

Gretchen J. Mahler, Emily J. Farrar, R. Schwartz, 2015 .

Detection of Viral Deoxyribonucleic Acid in Amniotic Fluid: Association with Fetal Malformation and Pregnancy Abnormalities

J. Towbin, A. Baschat, U. Reddy, 2005, Fetal Diagnosis and Therapy.

Prevalence of viral DNA in amniotic fluid of low-risk pregnancies in the second trimester

J. Towbin, A. Baschat, N. Bowles, 2003, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS.

R Lazzara, D M Roden, D. Roden, 1996, Circulation.

Phenotypic Characterization of a Large European Family with Brugada Syndrome Displaying a Sudden Unexpected Death Syndrome Mutation in SCN5A:

J. Towbin, J. Brugada, R. Brugada, 2004, Journal of cardiovascular electrophysiology.

A Common SCN5A Variant Alters the Responsiveness of Human Sodium Channels to Class I Antiarrhythmic Agents

J. Towbin, M. Vatta, Z. Li, 2007, Journal of cardiovascular electrophysiology.

Erratum: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies (Europace (2011) 13 (1077-1109) DOI: 10.1093/europace/eur245)

H. Calkins, P. Ellinor, S. Priori, 2012 .

Fontan palliation versus heart transplantation: a comparison of charges.

J. Towbin, A. Garson, R. Gajarski, 1996, American heart journal.

The molecular basis of vascular disorders.

J. Belmont, J. Towbin, B. Casey, 1999, American journal of human genetics.

Parvovirus B19 Myocarditis Causes Significant Morbidity and Mortality in Children

J. Towbin, D. Nelson, W. Morrow, 2013, Pediatric Cardiology.

Molecular genetic aspects of the Romano-Ward long QT syndrome.

J. Towbin, 1994, Texas Heart Institute journal.

Novel Mutations in Brugada Syndrome

J. Towbin, J. Brugada, R. Brugada, 1999 .

The A, B, Cs of sudden infant death syndrome: an electrical disorder?

J. Towbin, 2010, Heart rhythm.

The Impact of Concomitant Left Ventricular Non-compaction with Congenital Heart Disease on Perioperative Outcomes

J. Towbin, J. Jefferies, T. Ryan, 2016, Pediatric Cardiology.

Novel Gene Mutations in Patients with Left Ventricular Noncompaction and Evidence for Genetic Heterogeneity

J. Towbin, I. Hashimoto, N. Bowles, 2007 .

Genetic and molecular basis of cardiac arrhythmias : Impact on clinical management

R. Hauer, S. Priori, D. Roden, 1999 .

Epidemiology and Cause-Specific Outcome of Hypertrophic Cardiomyopathy in Children: Findings From the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2007, Circulation.

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

A. Moss, P. Schwartz, J. Towbin, 1994, Nature Genetics.

Diagnosis and Evaluation of Hypertrophic Cardiomyopathy

M. Desai, J. Towbin, B. Maron, 2022 .

Outcomes of congenital heart surgery patients after extracorporeal life support at Texas Children's Hospital.

A. Undar, C. Fraser, J. Towbin, 2004, Artificial organs.

A Nonsense SCN5A Mutation Associated with Brugada‐Type Electrocardiogram and Intraventricular Conduction Defects

J. Towbin, R. Brugada, M. Vatta, 2009, Pacing and clinical electrophysiology : PACE.

Further Associations of Congenital Heart Disease and Genetic Syndromes: Report of a Case of Tetralogy of Fallot and Fabry’s Disease

J. Belmont, J. Towbin, D. Mcnamara, 1999, Pediatric Cardiology.

Genetic issues in pediatric cardiomyopathy: Future research directions

W. Chung, J. Towbin, 2011 .

“ Defining and Setting National Goals for Cardiovascular Health Promotion and Disease Reduction : The American Heart Association ’ s Strategic Impact

J. Towbin, J. Steinberger, E. Urbina, 2016 .

Effect of patent ductus arteriosus on the heart in preterm infants

J. Towbin, S. Sathanandam, Jason F. Goldberg, 2019, Congenital heart disease.

Prevalence of Left Ventricular Noncompaction in Newborns by Echocardiography: Is This the Most Accurate Approach?

J. Towbin, J. Johnson, 2022, Circulation. Cardiovascular imaging.

Prevalence of left ventricular hypertrabeculation/noncompaction among children with sickle cell disease

J. Towbin, C. McMahon, R. Pignatelli, 2018, Congenital heart disease.

Characterization of Left Ventricular Diastolic Function by Tissue Doppler Imaging and Clinical Status in Children With Hypertrophic Cardiomyopathy

J. Towbin, W. Dreyer, S. Nagueh, 2004, Circulation.

Intrauterine Viral Infection at the Time of Second Trimester Genetic Amniocentesis

J. Towbin, N. Bowles, K. Wenstrom, 1998, Obstetrics and gynecology.

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

Barry J Maron, Harry Rakowski, Christine E Seidman, 2011, Circulation.

Cardiomyopathy With Restrictive Physiology in Sickle Cell Disease.

J. Towbin, P. Malik, C. Quinn, 2016, JACC. Cardiovascular imaging.

Familial right ventricular dysplasia (cardiomyopathy).

J. Towbin, B. Radovancević, O. Frazier, 1995, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

Long QT syndrome and pregnancy.

E. Kaufman, S. Priori, A. Moss, 2007, Journal of the American College of Cardiology.

Viral endomyocardial infection in the 1st year post transplant is associated with persistent inflammation in children who have undergone cardiac transplant

J. Towbin, W. Dreyer, M. Moulik, 2013, Cardiology in the Young.

Cardiotropic viruses in the myocardium of children with end-stage heart disease.

J. Towbin, M. Vatta, N. Bowles, 2004, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene

L. Shaffer, J. Towbin, N. Bowles, 1999, Human Genetics.

Adenovirus infection in the lung results in graft failure after lung transplantation.

J. Towbin, T. Spray, N. Bowles, 1998, The Journal of thoracic and cardiovascular surgery.

1854 X-Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy ( Dystrophin ) Gene at the Xp 21 Locus

J. Towbin, B. Gelb, P. Brink, 2005 .

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus

J. Towbin, E. McCabe, W. Seltzer, 1989, Human Genetics.

Localization of the gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse American population

J. Towbin, P. Brink, R. Roberts, 1991 .

A noninvasive means of detecting preclinical cardiomyopathy in Duchenne muscular dystrophy?

J. Towbin, 2003, Journal of the American College of Cardiology.

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association.

C. Yancy, R. Vasan, J. Towbin, 2016, Circulation.

Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.

J. Towbin, C. Moncman, M. Vatta, 2010, Journal of the American College of Cardiology.

Mitochondrial Disease Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With

J. Belmont, J. Towbin, J. Hunter, 2005 .

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

H. Calkins, P. Ellinor, S. Priori, 2011, Heart rhythm.

Response to letter regarding article, "mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center".

J. Towbin, W. Dreyer, J. Jefferies, 2014, Circulation.

Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interd

Barry J Maron, Arthur J Moss, Charles Antzelevitch, 2006, Circulation.

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

Barry J Maron, Harry Rakowski, Christine E Seidman, 2011, Circulation.

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis Published, JLR Papers in Press, April 1, 2005. DOI 10.1194/jlr.M500056-JLR200

A. Munnich, J. Towbin, R. Wanders, 2005, Journal of Lipid Research.

Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy.

M. Gebbia, J. Towbin, B. Casey, 1996, Circulation.

Postpericardiotomy syndrome in pediatric heart transplant recipients. Immunologic characteristics.

J. Towbin, A. B. Martin, O. Frazier, 1995, Texas Heart Institute journal.

PCR diagnosis of viral pneumonitis from fixed-lung tissue in children.

J. Towbin, C. Langston, G. Demmler, 1996, Biochemical and molecular medicine.

Use of western immunoblot for evaluation of myocardial dystrophin, alpha-sarcoglycan, and beta-dystroglycan in dogs with idiopathic dilated cardiomyopathy.

J. Towbin, L. Freeman, D. Coovert, 2001, American journal of veterinary research.

Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis

J. Towbin, W. Craigen, W. Decker, 1999, Mammalian Genome.

Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.

J. Towbin, E. McCabe, B. Powell, 1990, American journal of human genetics.

Demonstration and characterization of human cardiac porin: a voltage-dependent channel involved in adenine nucleotide movement across the outer mitochondrial membrane.

J. Towbin, V. De Pinto, E. McCabe, 1989, Biochemical medicine and metabolic biology.

Feasibility and Safety of Percutaneous Cardiac Interventions for Congenital and Acquired Heart Defects in Infants ≤1000 g

J. Towbin, V. Joshi, B. Waller, 2021, Children.

Conditional Ablation of Nonmuscle Myosin II-B Delineates Heart Defects in Adult Mice

Michael D. Schneider, Aman P. Singh, Chengyu Liu, 2009, Circulation research.

Deficiency in Nebulin Repeats of Sarcomeric Nebulette is Detrimental for Cardiomyocyte Tolerance to Exercise and Biomechanical Stress.

J. Towbin, Lu Lu, E. Azeloglu, 2021, American journal of physiology. Heart and circulatory physiology.

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

M. Link, L. Mestroni, H. Calkins, 2019, Heart rhythm.

Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes.

S E Scherer, R A Gibbs, R. Gibbs, 2000, Genomics.

Global, regional, and national age-sex-specific mortality and life expectancy, 1950–2017: a systematic analysis for the Global Burden of Disease Study 2017

Madhu Sudhan Atteraya, Mohammad Hosein Farzaei, Fares Alahdab, 2018, The Lancet.

Symptom complex is associated with transplant coronary artery disease and sudden death/resuscitated sudden death in pediatric heart transplant recipients.

J. Towbin, W. Dreyer, B. Radovancević, 2005, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome

J. Towbin, W. Dreyer, N. Bowles, 2001, Circulation.

Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis.

J. Towbin, J. Jefferies, J. Rossano, 2018, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Radio-frequency catheter ablation of accessory pathway mediated tachycardia in a child after orthotopic heart transplantation.

J. Towbin, W. Dreyer, B. Cannon, 2005, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.

S. Priori, J. Towbin, W. Shimizu, 2004, Journal of the American College of Cardiology.

Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease

J. Towbin, S. Mital, W. Mahle, 2012, Pediatrics.

S. Priori, A. Moss, P. Schwartz, 1998, Circulation.

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

J. Towbin, F. Scaglia, A. Scheuerle, 2002, BMC pediatrics.

Fatal intrauterine adenoviral endomyocarditis with aortic and pulmonary valve stenosis: diagnosis by polymerase chain reaction.

J. Towbin, N. Bowles, J. Ni, 2000, Human pathology.

Intrauterine adenoviral infection associated with fetal non‐immune hydrops

J. Towbin, B. Uerpairojkit, N. Bowles, 1998, Prenatal Diagnosis.

Detection of intrauterine viral infection using the polymerase chain reaction.

J. Towbin, N. Bowles, K. Moise, 1998, Molecular genetics and metabolism.

Neurologic complications of heart transplantation in children.

J. Towbin, B. Gelb, A. B. Martin, 1992, The Journal of Heart and Lung Transplantation.

Viral infection of the myocardium in endocardial fibroelastosis. Molecular evidence for the role of mumps virus as an etiologic agent.

J. Towbin, N. Bowles, J. T. Bricker, 1997, Circulation.

Maturation of the heart.

J. Towbin, D. Fisher, 1988, Clinics in perinatology.

Estimates of global, regional, and national incidence, prevalence, and mortality of HIV, 1980–2015: the Global Burden of Disease Study 2015

Reed J. D. Sorensen, Alan D. Lopez, Timothy M Wolock, 2016, The lancet. HIV.

Cardiac copper content and its relationship with heart physiology: Insights based on quantitative genetic and functional analyses using BXD family mice

J. Towbin, A. Bajpai, Fuyi Xu, 2023, Frontiers in Cardiovascular Medicine.

Increased Risk of Arrhythmic Events in Long-QT Syndrome With Mutations in the Pore Region of the Human Ether-a-go-go–Related Gene Potassium Channel

Derick R. Peterson, E. Kaufman, S. Priori, 2002, Circulation.

Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.

J. Towbin, J. Brugada, R. Brugada, 2002, Human molecular genetics.

Outcomes among pediatric heart transplant recipients after dual-therapy cytomegalovirus prophylaxis

J. Towbin, H. Rosenblatt, S. Denfield, 1997 .

&bgr;2-Adrenergic Receptor Genetic Variants and Risk of Sudden Cardiac Death

T. Lumley, T. Rea, L. Kuller, 2006 .

Detection of Microorganisms in the Tracheal Aspirates of Preterm Infants by Polymerase Chain Reaction: Association of Adenovirus Infection with Bronchopulmonary Dysplasia

J. Towbin, N. Bowles, J. Ni, 1998, Pediatric Research.

Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.

B. Trask, G. van den Engh, J. Towbin, 1992, American journal of human genetics.

Global and National Burden of Diseases and Injuries Among Children and Adolescents Between 1990 and 2013: Findings From the Global Burden of Disease 2013 Study.

Dan J Stein, Alan D. Lopez, Timothy M Wolock, 2016, JAMA pediatrics.

Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.

Y. Huang, J. Towbin, J. Balschi, 2014, American journal of physiology. Heart and circulatory physiology.

Clinic-based study of plexiform neurofibromas in neurofibromatosis 1.

J. Towbin, D. Gutmann, D. Waggoner, 2000, American journal of medical genetics.

Human Genetics of Congenital Heart Disease

J. Towbin, 2007 .

SNP genotyping to screen for a common deletion in CHARGE Syndrome

J. Belmont, J. Towbin, S. Lalani, 2005, BMC Medical Genetics.

Polymerase chain reaction and its uses as a diagnostic tool for cardiovascular disease.

J. Towbin, 1995, Trends in cardiovascular medicine.

Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene

D. Wheeler, K. Worley, J. Towbin, 1993, Nature Genetics.

Techniques of Molecular Biology

J. Towbin, R. Roberts, Thomas Parker, 1992 .

Historical perspective of molecular biology and the role of the cardiologist

J. Towbin, R. Roberts, A. Mares, 1992 .

The Fundamental Discoveries and Unique Features of Recombinant DNA Techniques

J. Towbin, R. Roberts, Thomas Parker, 1992 .

Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy.

J. Towbin, M. Ackerman, J. Bos, 2009, Journal of the American College of Cardiology.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Alexander Hanbo Li, Mahshid S. Azamian, J. Rosenfeld, 2017, Genome Medicine.

The “Final Common Pathway” Hypothesis and Inherited Cardiovascular Disease The Role of Cytoskeletal Proteins in Dilated Cardiomyopathy

Neil E. Bowles, Jeffrey A. Towbin, J. Towbin, 2000, Herz.

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Leif E. Peterson, L. D. White, R. Gibbs, 2006, American journal of human genetics.

The role of cytoskeletal proteins in cardiomyopathies.

J. Towbin, J A Towbin, 1998, Current opinion in cell biology.

Molecular Biology of Cardiac Ion Channels

J. Towbin, R. Roberts, Thomas Parker, 1992 .

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Mahshid S. Azamian, J. Lupski, S. Leal, 2016, Human molecular genetics.

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

J. Belmont, J. Towbin, S. Fernbach, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways

J. Towbin, Lu Lu, J. Pierre, 2021, Physiological genomics.

Genetic basis of hypertrophic cardiomyopathy

J. Towbin, M. Vatta, Xiaolei Xu, 2010 .

The genetic architecture of pediatric cardiomyopathy.

S. Colan, Yufeng Shen, B. Aronow, 2022, American journal of human genetics.

Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction.

J. Towbin, Lu Lu, J. Jefferies, 2021, International journal of cardiology.

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study

Lisa J. Martin, W. Chung, S. Colan, 2021, Journal of the American Heart Association.

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

M. Link, L. Mestroni, H. Calkins, 2019, Heart rhythm.

X‐Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus

J. Towbin, B. Gelb, P. Brink, 1993, Circulation.

Association of parvovirus B19 genome in children with myocarditis and cardiac allograft rejection: diagnosis using the polymerase chain reaction.

J. Towbin, N. Bowles, G. Rosenthal, 1997, Circulation.

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.

Cardiovascular Family History Increases Risk for Late-Onset Adverse Cardiovascular Outcomes in Childhood Cancer Survivors: A St. Jude Lifetime Cohort Report

Carmen L. Wilson, J. Towbin, R. Luepker, 2020, Cancer Epidemiology, Biomarkers & Prevention.

Association between diffuse myocardial fibrosis and diastolic dysfunction in sickle cell anemia.

J. Towbin, P. Malik, T. Alsaied, 2017, Blood.

Competing Risks for Death and Cardiac Transplantation in Children With Dilated Cardiomyopathy: Results From the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2011, Circulation.

Cardiac Metabolic Pathways Affected in the Mouse Model of Barth Syndrome

Y. Huang, J. Towbin, S. Madala, 2015, PloS one.

Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome

Salvatore DiMauro, S. Dimauro, J. Towbin, 2002, Annals of neurology.

Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy.

J. Towbin, P. Elliott, N. Bowles, 2007, Molecular genetics and metabolism.

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

R. Schwartz, J. Towbin, P. Elliott, 2003, Molecular genetics and metabolism.

Strategies to Prevent Cast Formation in Patients with Plastic Bronchitis Undergoing Heart Transplantation

J. Towbin, J. Jefferies, T. Ryan, 2017, Pediatric Cardiology.

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.

M. Gebbia, J. Towbin, R. Kosaki, 1999, American journal of medical genetics.

154 – Pathophysiology of Cardiomyopathies

J. Towbin, J. Jefferies, T. Ryan, 2017 .

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.

Michael J Ackerman, Jeanne L Theis, B. Gersh, 2006, Biochemical and biophysical research communications.

Molecular genetics of cardiomyopathies and myocarditis

J. Towbin, M. Vatta, 2010 .

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

J. Towbin, D. Tester, M. Ackerman, 2001, JAMA.

Incidence, causes, and outcomes of dilated cardiomyopathy in children.

S. Colan, J. Towbin, L. Sleeper, 2006, JAMA.

Proposed diagnostic criteria for the Brugada syndrome: consensus report.

R. Hauer, S. Priori, J. Towbin, 2002, Circulation.

Long-Term Follow-Up of Individuals With the Electrocardiographic Pattern of Right Bundle-Branch Block and ST-Segment Elevation in Precordial Leads V1 to V3

J. Towbin, J. Brugada, R. Brugada, 2002, Circulation.

Initial Observations of the Effects of Calcium Chloride Infusions in Pediatric Patients with Low Cardiac Output

J. Towbin, D. Nelson, C. Krawczeski, 2016, Pediatric Cardiology.

Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome.

S. Priori, K. Sunagawa, J. Towbin, 2004, Heart rhythm.

Tracheal aspirate as a substrate for polymerase chain reaction detection of viral genome in childhood pneumonia and myocarditis.

J. Towbin, N. Bowles, G. Rosenthal, 1999, Circulation.

Fatal Epstein-Barr virus myocarditis in a child with repetitive myocarditis.

J. Towbin, B. Rogers, C. Yu, 1995, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

Chapter 8 – Left Ventricular Noncompaction Cardiomyopathy

J. Towbin, 2017 .

LEFT VENTRICULAR NONCOMPACTION CARDIOMYOPATHY

J. Towbin, J. Ballweg, J. Johnson, 2017 .

Left ventricular noncompaction: a new form of heart failure.

J. Towbin, 2010, Heart failure clinics.

Clinical Characterization of Left Ventricular Noncompaction in Children: A Relatively Common Form of Cardiomyopathy

J. Belmont, J. Towbin, S. Fernbach, 2003, Circulation.

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Alexander F. Schier, Rebecca D. Burdine, Jeffrey A. Towbin, 2000, Nature Genetics.

Pathophysiology, Clinical Recognition, and Treatment of Congenital Heart Disease

J. Towbin, S. Neish, 2007 .

Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017

T. H. Nguyen, T. Vos, C. Murray, 2020, The Lancet. Child & adolescent health.

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria

Wojciech Zareba, Hugh Calkins, Thomas Wichter, 2010, Circulation.

Genetics and Cardiovascular Disease: A Policy Statement From the American Heart Association

E. Ashley, P. Ellinor, C. Caleshu, 2012, Circulation.

Desmosomal Dysfunction due to Mutations in Desmoplakin Causes Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Hugh Calkins, Jeffrey E. Saffitz, Shuping Ge, 2006, Circulation research.

A genetic etiology for interruption of the aortic arch type B.

J. Towbin, A. Baldini, M. Lewin, 1997, The American journal of cardiology.

Cardiac transplantation for pediatric patients. With inoperable congenital heart disease.

J. Towbin, B. Radovancević, O. Frazier, 1998, Texas Heart Institute journal.

Cardiomyopathies in Infants and Children

J. Towbin, M. Vatta, J. Jefferies, 2011 .

Molecular mechanisms of pediatric cardiomyopathies and new targeted therapies

J. Towbin, 2008 .

Association of persistent tachycardia with early myocardial dysfunction in children undergoing allogeneic hematopoietic cell transplantation

J. Towbin, V. Joshi, Simonne S. Nouer, 2021, Bone Marrow Transplantation.

Myocardial Fibrosis Burden Predicts Left Ventricular Ejection Fraction and Is Associated With Age and Steroid Treatment Duration in Duchenne Muscular Dystrophy

B. Wong, J. Towbin, R. Fleck, 2015, Journal of the American Heart Association.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

J. Belmont, J. Towbin, Murim Choi, 2011, Proceedings of the National Academy of Sciences.

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)

S. Leal, J. Belmont, J. Towbin, 2009, European Journal of Human Genetics.

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability

S. Leal, J. Belmont, J. Towbin, 2005, American journal of medical genetics. Part A.

Echocardiographic Evaluation of Asymptomatic Parental and Sibling Cardiovascular Anomalies Associated With Congenital Left Ventricular Outflow Tract Lesions

J. Belmont, J. Towbin, S. Fernbach, 2004, Pediatrics.

Anomalous course of the brachiocephalic vein diagnosed by two‐dimensional echocardiography in a child with left atrial isomerism and right aortic arch

J. Towbin, J. Huhta, M. Nihill, 1987, Journal of clinical ultrasound : JCU.

D-transposition of the great arteries: the current era of the arterial switch operation.

M. Nathan, J. Towbin, M. Elliott, 2014, Journal of the American College of Cardiology.

The Genetics of Cardiac Arrhythmias

J. Towbin, M. Vatta, 2000, Pacing and clinical electrophysiology : PACE.

Chapter 33 – Congenital Cardiomyopathies

J. Towbin, S. Ware, J. Jefferies, 2012 .

Arrhythmogenic Right Ventricular Cardiomyopathy Causing Sudden Cardiac Death in Boxer Dogs: A New Animal Model of Human Disease

Jeffrey A. Towbin, J. Towbin, B. Maron, 2004, Circulation.

Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.

J. Towbin, R. Roberts, L. Bachinski, 1996, The Journal of clinical investigation.

Long QT syndrome in adults.

Andrew J. Sauer, E. Kaufman, S. Priori, 2007, Journal of the American College of Cardiology.

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline.

L. Mestroni, J. Towbin, C. Seidman, 2009, Journal of cardiac failure.

Management of Congenital Long-QT Syndrome: Commentary From the Experts

M. Chung, E. Kaufman, S. Priori, 2021, Circulation. Arrhythmia and electrophysiology.

Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations.

E. Kaufman, A. Moss, J. Towbin, 2013, Heart rhythm.

Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome.

E. Kaufman, A. Moss, J. Towbin, 2012, Heart rhythm.

Risk of Syncope in Family Members Who Are Genotype-Negative for a Family-Associated Long-QT Syndrome Mutation

E. Kaufman, A. Moss, J. Towbin, 2011, Circulation. Cardiovascular genetics.

Genotype-specific QT correction for heart rate and the risk of life-threatening cardiac events in adolescents with congenital long-QT syndrome.

Derick R. Peterson, E. Kaufman, A. Moss, 2011, Heart rhythm.

Risk factors for recurrent syncope and subsequent fatal or near-fatal events in children and adolescents with long QT syndrome.

Derick R. Peterson, E. Kaufman, S. Priori, 2011, Journal of the American College of Cardiology.

Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy.

E. Kaufman, S. Priori, A. Moss, 2009, Journal of the American College of Cardiology.

Risk of death in the long QT syndrome when a sibling has died.

E. Kaufman, S. Priori, A. Moss, 2008, Heart rhythm.

Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children With the Congenital Long-QT Syndrome

Derick R. Peterson, E. Kaufman, S. Priori, 2008, Circulation.

Over two decades of pediatric heart transplantation: how has survival changed?

C. Fraser, J. Towbin, W. Dreyer, 2007, The Journal of thoracic and cardiovascular surgery.

Heart transplantation in an 8-month-old girl. 10th anniversary report.

J. Towbin, B. Radovancević, O. Frazier, 1995, Texas Heart Institute journal.

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.

M. Link, B. Gersh, C. Yancy, 2011, The Journal of thoracic and cardiovascular surgery.

Brugada Syndrome Genetics

J. Towbin, J. Brugada, R. Brugada, 2000 .

The Brugada syndrome: clinical, electrophysiologic and genetic aspects.

J. Towbin, C. Antzelevitch, I. Gussak, 1999, Journal of the American College of Cardiology.

X-linked dilated cardiomyopathy.

J. Towbin, B. Gelb, P. Brink, 1987, The New England journal of medicine.

Dilated cardiomyopathy

J. Towbin, J. Jefferies, Jeffrey A Towbin, 2010, The Lancet.

Hot topics in tetralogy of Fallot.

Jeffrey A. Feinstein, Tal Geva, Thomas P. Graham, 2013, Journal of the American College of Cardiology.

International Society for Heart and Lung Transplantation: Practice guidelines for management of heart failure in children.

J. Towbin, D. Bernstein, S. Berger, 2004, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Electrocardiographic criteria for diagnosis of acute myocardial infarction in childhood.

J. Towbin, A. Garson, J. T. Bricker, 1992, The American journal of cardiology.

A Scientific Statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology

Renu Virmani, Leslie T Cooper, Andrea Frustaci, 2022 .

The role of endomyocardial biopsy in the management scientific statement of the ESC (european society of cardiology)

R. Virmani, J. Towbin, L. Cooper, 2007 .

Recent advances in the etiology, diagnosis, and treatment of myocarditis and cardiomyopathies in children.

J. Towbin, R. Gajarski, 1995, Current opinion in pediatrics.

Barry J Maron, Harry Rakowski, Christine E Seidman, 2011, Journal of the American College of Cardiology.

Hypertrophic Cardiomyopathy

J. Towbin, 2009, Pacing and clinical electrophysiology : PACE.

Molecular genetic basis of sudden cardiac death.

J. Towbin, 2004, Pediatric clinics of North America.

Chapter 49 – Human Molecular Genetics and the Heart

J. Towbin, N. Bowles, 2004 .

Molecular diagnosis of myocardial disease

J. Towbin, N. Bowles, 2002, Expert review of molecular diagnostics.

Cardiomyopathies and Myofibril Abnormalities

J. Towbin, N. Bowles, 2002 .

Molecular genetic basis of sudden cardiac death.

J. Towbin, 2001, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Arrhythmogenic inherited heart muscle diseases in children.

J. Towbin, N. Bowles, 2001, Journal of electrocardiology.

Molecular genetics of hypertrophic cardiomyopathy

J. Towbin, 1991, Current cardiology reports.

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

A. Schier, J. Belmont, J. Towbin, 2007, American journal of human genetics.

Molecular Biology of Contractile and Cytoskeletal Proteins

J. Towbin, R. Roberts, Thomas Parker, 1992 .

A novel Alu‐mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome

J. Towbin, M. Vatta, Harinder R. Singh, 2009, American journal of medical genetics. Part A.

Pediatric myocardial disease.

J. Towbin, 1999, Pediatric clinics of North America.

Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.

J. Towbin, E. Purevjav, N. Alberson, 2022, Reviews in cardiovascular medicine.

Adenovirus and the Myocardium

J. Towbin, 1997 .

Analysis of formalin-fixed and frozen myocardial autopsy samples for viral genome in childhood myocarditis and dilated cardiomyopathy with endocardial fibroelastosis using polymerase chain reaction (PCR).

J. Towbin, L. Griffin, S. Webber, 1995, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease.

J. Towbin, B. Gelb, E. McCabe, 1991, American journal of medical genetics.

Identiﬁcation and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects

J. Belmont, J. Towbin, S. Fernbach, 2022 .

Mutations in the Human δ-Sarcoglycan Gene in Familial and Sporadic Dilated Cardiomyopathy, a Disease of the Cytoskeleton and Sarcolemma

J. Towbin, M. Vatta, N. Bowles, 2000 .

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events: Implications for Mutation-Specific Response to &bgr;-Blocker Therapy in Type 1 Long-QT Syndrome

E. Kaufman, A. Moss, J. Towbin, 2012, Circulation.

Pediatric and adult dilated cardiomyopathy represent distinct pathological entities.

J. Towbin, C. Canter, K. Lavine, 2017, JCI insight.

Molecular biology and the prolonged QT syndromes.

J. Towbin, M. Vatta, J A Towbin, 2001, The American journal of medicine.

The effects of cardio-selective b blockade on diastolic dysfunction in children with sickle cell disease

J. Towbin, G. Kang, J. Hankins, 2022, Haematologica.

Cardiovascular Health Promotion in Children: Challenges and Opportunities for 2020 and Beyond A Scientific Statement From the American Heart Association

S. Daniels, J. Towbin, D. Lloyd‐Jones, 2016, Circulation.

A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.

J. Belmont, J. Towbin, S. Fernbach, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Foundation/American Heart Association Task Force on Practice Guidelines Cardiomyopathy : A Report of the American College of Cardiology 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic

B. Gersh, J. Towbin, S. Ommen, 2011 .

Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome.

J. Towbin, B. Maron, M. Ackerman, 2005, Journal of the American College of Cardiology.

Localization of Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14ql in a Diverse US Population

J. Towbin, P. Brink, R. Roberts, 1991, Circulation.

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome

S. Priori, J. Towbin, W. Shimizu, 2004 .

Clinical and genetic variables associated with acute arousal and nonarousal-related cardiac events among subjects with long QT syndrome.

S. Priori, A. Moss, P. Schwartz, 2000, The American journal of cardiology.

Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome.

S. Priori, A. Moss, P. Schwartz, 1999, The American journal of cardiology.

New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

S. Priori, A. Moss, P. Schwartz, 1998, Circulation.

Mechanical circulatory support in children.

J. Towbin, B. Radovancević, O. Frazier, 1994, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors

Claudia Stöllberger, Jeffrey A. Towbin, J. Finsterer, 2017, Nature Reviews Cardiology.

Duchenne muscular dystrophy

J. Towbin, S. W. Sernett, K. Campbell, 1993, Neurology.

The Essentials of Molecular Genetics

J. Towbin, R. Roberts, Thomas Parker, 1992 .

Familial Dilated Cardiomyopathy

J. Towbin, N. Bowles, 2000 .

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.

Toshio Miyawaki, Rui Chen, Noriyuki Haneda, 2005, Molecular genetics and metabolism.

Genetic Predictors and Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy

J. Belmont, J. Towbin, S. Fernbach, 2005, Circulation.

Essentials of Nucleic Acids and Proteins

J. Towbin, R. Roberts, Thomas Parker, 1992 .

Prospects for adenovirus-mediated gene therapy of inherited diseases of the myocardium.

J. Towbin, N. Bowles, Q. Wang, 1997, Cardiovascular research.

Xp2IContiguous GeneSyndromes: Deletion Quantitation with Bivariate FlowKaryotyping AllowsMapping ofPatient Breakpoints

J. Towbin, E. McCabe, E. Mccabe, 1992 .

Echocardiographic predictors of adverse clinical events in children with dilated cardiomyopathy: a prospective clinical study

J. Towbin, W. Dreyer, S. Nagueh, 2004, Heart.

Chapter 27 – Heart Failure as a Consequence of Genetic Cardiomyopathy

J. Towbin, J. Jefferies, 2011 .

Pediatric Cardio-Oncology Medicine: A New Approach in Cardiovascular Care

Michael W. Bishop, C. Pui, J. Towbin, 2021, Children.

Long-term results of triple-drug-based immunosuppression in nonneonatal pediatric heart transplant recipients.

J. Towbin, B. Radovancević, O. Frazier, 1998, Transplantation.

Diagnosis, surveillance, and epidemiologic evaluation of viral infections in pediatric cardiac transplant recipients with the use of the polymerase chain reaction.

J. Towbin, B. Radovancević, J. T. Bricker, 1996, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Enzyme product blot for nondestructive assay of protein catalytic function in polyacrylamide gels.

J. Towbin, E. McCabe, M. Minter, 1989, Analytical biochemistry.

The detection of viral genomes by polymerase chain reaction in the myocardium of pediatric patients with advanced HIV disease.

J. Towbin, S. Lipshultz, N. Bowles, 1999, Journal of the American College of Cardiology.

The International Society for Heart and Lung Transplantation Guidelines for the management of pediatric heart failure: Executive summary. [Corrected].

J. Towbin, R. Weintraub, M. Burch, 2014, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Assessment and management of the failing heart in children

J. Towbin, G. Shirali, R. Tanel, 2008, Cardiology in the Young.

Evidence of Genetic Heterogeneity in Romano‐Ward Long QT syndrome: Analysis of 23 Families

P. Schwartz, J. Towbin, M. Lehmann, 1994, Circulation.

Pediatric Cardiomyopathies.

W. Chung, S. Colan, J. Towbin, 2017, Circulation research.

Ace2 and Tmprss2 Expressions Are Regulated by Dhx32 and Influence the Gastrointestinal Symptoms Caused by SARS-CoV-2

J. Towbin, Lu Lu, A. Bajpai, 2021, Journal of personalized medicine.

Molecular Screening by Polymerase Chain Reaction Detects Panleukopenia Virus DNA in Formalin-Fixed Hearts from Cats with Idiopathic Cardiomyopathy and Myocarditis

Kathryn M Meurs, J. Towbin, Jeffrey A Towbin, 2000, Cardiovascular Pathology.

Improved myocardial structure following LVAD support: effect of unloading on dystrophin expression.

J. Towbin, M. Vatta, N. Bowles, 2001, The Journal of Heart and Lung Transplantation.

Genetics of dilated cardiomyopathy: more genes that kill.

J. Towbin, R. Solaro, 2004, Journal of the American College of Cardiology.

B-Type Natriuretic Peptide Predicts Adverse Cardiovascular Events in Pediatric Outpatients With Chronic Left Ventricular Systolic Dysfunction

J. Towbin, W. Dreyer, E. Smith, 2006, Circulation.

19 The Brugada Syndrome

J. Towbin, J. Brugada, C. Antzelevitch, 2003 .

Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts.

J. Towbin, J. Brugada, R. Brugada, 2000, Circulation.

Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life‐Threatening Arrhythmias

L. Mestroni, J. Towbin, W. Zareba, 2015, Journal of the American Heart Association.

Task Force 2: congenital heart disease.

J. Towbin, J. Newburger, A. Rocchini, 2005, Journal of the American College of Cardiology.

Incidence of and risk factors for sudden cardiac death in children with dilated cardiomyopathy: a report from the Pediatric Cardiomyopathy Registry.

S. Colan, J. Towbin, L. Sleeper, 2012, Journal of the American College of Cardiology.

The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years.

S. Colan, J. Towbin, L. Sleeper, 2010, Heart failure clinics.

Improved outcomes of pediatric dilated cardiomyopathy with utilization of heart transplantation.

S. Colan, J. Towbin, K. Trinkaus, 2004, Journal of the American College of Cardiology.

Management of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.

M. Desai, J. Towbin, B. Maron, 2022, Journal of the American College of Cardiology.

Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome.

A. Moss, P. Schwartz, J. Towbin, 1997, Journal of the American College of Cardiology.

Human herpes virus 6 in archival cardiac tissues from children with idiopathic dilated cardiomyopathy or congenital heart disease

J. Towbin, M. Vatta, M. Comar, 2008, Journal of Clinical Pathology.

Arrhythmias and dilated cardiomyopathy common pathogenetic pathways?

J. Towbin, A. Lorts, 2011, Journal of the American College of Cardiology.

Etiologies of cardiomyopathy and heart failure

J. Towbin, N. Bowles, K. Bowles, 1999, Nature Medicine.

Acquired and modifiable cardiovascular risk factors in patients treated for cancer

J. Towbin, G. Beasley, 2020, Journal of Thrombosis and Thrombolysis.

Effect of body mass index on outcome in pediatric heart transplant patients.

J. Towbin, W. Dreyer, E. Mckenzie, 2007, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Genetics of cardiomyopathies in children

J. Towbin, M. Vatta, 2011 .

Long-Term Follow-Up of Individuals With the Electrocardiographic Pattern of Right Bundle-Branch Block and ST-Segment Elevation in Precordial Leads V 1 to V 3

J. Towbin, J. Brugada, R. Brugada, 2001 .

Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy.

J. Towbin, J. Wansapura, M. D. Taylor, 2013, Journal of molecular and cellular cardiology.

Sickle cell anemia mice develop a unique cardiomyopathy with restrictive physiology

B. Aronow, J. Towbin, J. Wansapura, 2016, Proceedings of the National Academy of Sciences.

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Jørgen K. Kanters, E. Kaufman, A. Moss, 2016, Circulation.

Left ventricular non-compaction cardiomyopathy in children: characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxation

J. Towbin, W. Dreyer, S. Nagueh, 2006, Heart.

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

J. Towbin, R. Weintraub, S. Ommen, 2012, Human molecular genetics.

Design and implementation of the North American Pediatric Cardiomyopathy Registry.

E J Orav, S. Colan, S. Osganian, 2000, American heart journal.

Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species

Joshua D. Wythe, B. Bruneau, D. Srivastava, 2011, The Journal of cell biology.

Worsening renal function in children hospitalized with decompensated heart failure: Evidence for a pediatric cardiorenal syndrome?*

J. Towbin, W. Dreyer, D. Nelson, 2008, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

Preventing pediatric cardiomyopathy: a 2015 outlook

J. Towbin, J. Wilkinson, S. Lipshultz, 2016, Expert review of cardiovascular therapy.

Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children

J. Towbin, S. Fernbach, W. Dreyer, 2005, Circulation.

Characteristics and outcomes of heart failure-related intensive care unit admissions in children with cardiomyopathy.

J. Towbin, M. Hall, D. Penny, 2013, Journal of Cardiac Failure.

Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group

W. Chung, S. Colan, J. Towbin, 2017, Circulation. Heart failure.

Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa.

J. Towbin, R. Hinton, S. Ware, 2012, Circulation. Heart failure.

How should hypertrophic cardiomyopathy be classified?: What's in a name? Dilemmas in nomenclature characterizing hypertrophic cardiomyopathy and left ventricular hypertrophy.

B. Gersh, J. Towbin, S. Ommen, 2009, Circulation. Cardiovascular genetics.

Outcome of cardiac transplantation in children. Survival in a contemporary multi-institutional experience. Pediatric Heart Transplant Study.

J. Towbin, D. McGiffin, J. Kirklin, 1996, Circulation.

Assessing the global and regional impact of primary cardiomyopathies: The Global Burden of Diseases, Injuries and Risk Factors (GBD 2010) Study

M. Forouzanfar, S. Colan, M. Ezzati, 2011 .

Hypertrophic cardiomyopathy and its management in children

J. Towbin, S. Denfield, 1995 .

Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy.

J. Towbin, C. Seidman, R. Roberts, 1994, Human molecular genetics.

How accurately, reproducibly, and efficiently can we measure left ventricular indices using M-mode, 2-dimensional, and 3-dimensional echocardiography in children?

J. Towbin, M. Xie, D. Tomberlin, 2008, American heart journal.

Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy

J. Towbin, G. Vanpoucke, F. van Roy, 2003, Human Genetics.

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.

J. Belmont, J. Towbin, A. Baxevanis, 2009, Molecular genetics and metabolism.

Modification of a Volume-Overload Heart Failure Model to Track Myocardial Remodeling and Device-Related Reverse Remodeling

J. Towbin, B. Radovancević, O. Frazier, 2011, ISRN cardiology.

LAMP2 Microdeletions in Patients With Danon Disease

B. Wong, J. Towbin, B. Funke, 2010, Circulation. Cardiovascular genetics.

- 1-LAMP 2 Microdeletions in Patients with Danon Disease Running

B. Wong, J. Towbin, B. Funke, 2010 .

Erratum: Global, regional, and national levels of maternal mortality, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015 (The Lancet (2016) 388(10053) (1775–1812)(S0140673616314702)(10.1016/S0140-6736(16)31470-2))

Ashutosh Kumar Singh, Reed J. D. Sorensen, Alan D. Lopez, 2017 .

Stenting of the ductus arteriosus in hypoplastic left heart syndrome as an ambulatory bridge to cardiac transplantation.

J. Towbin, O. Frazier, J. T. Bricker, 1994, American Journal of Cardiology.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Postmortem cardiomegaly and echocardiographic measurements of left ventricular size and function in children infected with the human immunodeficiency virus. The Prospective P2C2 HIV Multicenter Study.

S. Colan, J. Towbin, S. Lipshultz, 2003, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Sympathetic stimulation produces a greater increase in both transmural and spatial dispersion of repolarization in LQT1 than LQT2 forms of congenital long QT syndrome.

S. Priori, K. Sunagawa, J. Towbin, 2001, Journal of the American College of Cardiology.

Usefulness of routine surveillance biopsies in children more than one year after orthotopic heart transplantation.

J. Towbin, S. Denfield, R. Gajarski, 2001, The American journal of cardiology.

Late pacemaker requirement after pediatric orthotopic heart transplantation may predict the presence of transplant coronary artery disease.

J. Towbin, R. Friedman, W. Dreyer, 2004, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Myocardial Fas Ligand Expression Increases Susceptibility to AZT-Induced Cardiomyopathy

Dennis P. Nelson, J. Towbin, M. Vatta, 2007, Cardiovascular Toxicology.

Evidence of genetic heterogeneity in the long QT syndrome.

B. Kerem, J. Blangero, J. Towbin, 1993, Science.

Molecular genetics of long QT syndrome from genes to patients.

J. Towbin, Q. Wang, Hua Li, 1997, Current opinion in cardiology.

Arginine Vasopressin Levels Are Elevated and Correlate With Functional Status in Infants and Children With Congestive Heart Failure

J. Towbin, W. Dreyer, C. McMahon, 2004, Circulation.

Cardiac remodeling after anthracycline and radiotherapy exposure in adult survivors of childhood cancer: A report from the St Jude Lifetime Cohort Study

J. Towbin, G. Armstrong, V. Joshi, 2021, Cancer.

408 Detection of viral deoxyribonucleic acid in amniotic fluid: Predictor of abnormal pregnancy

J. Towbin, A. Baschat, U. Reddy, 2001 .

Risk of Recurrent Cardiac Events After Onset of Menopause in Women With Congenital Long-QT Syndrome Types 1 and 2

E. Kaufman, A. Moss, J. Towbin, 2011, Circulation.

Effect of solute temperature in the measurement of cardiac output in children using the thermodilution technique

J. Towbin, D. Zurakowski, S. Sathanandam, 2017, Congenital heart disease.

Left Ventricular Strain Is Abnormal in Preclinical and Overt Hypertrophic Cardiomyopathy: Cardiac MR Feature Tracking.

S. Colan, L. Chu, D. Bluemke, 2019, Radiology.

Familial hypertrophic cardiomyopathy in maine coon cats: an animal model of human disease.

J. Towbin, K. Meurs, M. Kittleson, 1999, Circulation.

Heart failure in children and young adults : from molecular mechanisms to medical and surgical strategies

J. Towbin, A. Chang, 2006 .

MYOCARDIAL INFARCTION IN CHILDREN

J. Towbin, J. T. Bricker, D. Mcnamara, 1987, Pediatric Research.

Differential effects of beta-blockade on dispersion of repolarization in the absence and presence of sympathetic stimulation between the LQT1 and LQT2 forms of congenital long QT syndrome.

S. Priori, K. Sunagawa, J. Towbin, 2002, Journal of the American College of Cardiology.

Leukocyte suppression is associated with improved clinical outcomes in children's status after orthotopic heart transplantation.

J. Towbin, W. Dreyer, J. Jefferies, 2006, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Prolonged QT in a 13‐Year‐Old Patient with Down Syndrome and Complete Atrioventricular Canal Defect

J. Towbin, I. Goldenberg, T. Knilans, 2011, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.

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

The Z-Disk Final Common Pathway in Cardiomyopathies

J. Towbin, E. Purevjav, Jeffrey A. Towbin, 2021, Cardiomyopathy - Disease of the Heart Muscle [Working Title].

Cardiac Imaging and Biomarkers for Assessing Myocardial Fibrosis in Children with Hypertrophic Cardiomyopathy.

W. Chung, S. Colan, J. Towbin, 2023, American heart journal.

Transcatheter closure of residual atrial septal defect following cardiac transplantation.

J. Towbin, B. Gelb, J. T. Bricker, 1993, Catheterization and cardiovascular diagnosis.

Erratum: Long QT syndrome patients with mutations on the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate: Implications for gene-specific therapy (Circulation (1995) 92 (3381-3386))

Carlo Napolitano, Peter J. Schwartz, Emanuela H. Locati, 1996 .

Cardiac Arrhythmias:

J. Towbin, 2000 .

Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach

J. Towbin, Lu Lu, Z. Khuchua, 2017, World journal of cardiology.

Elevated Copeptin Levels Are Associated with Heart Failure Severity and Adverse Outcomes in Children with Cardiomyopathy

J. Towbin, A. West, Samir H. Shah, 2023, Children.

Detection of viral deoxyribonucleic acid in amniotic fluid: association with fetal malformation and pregnancy abnormalities.

J. Towbin, A. Baschat, U. Reddy, 2001, Fetal diagnosis and therapy.

Human Disease Familial Hypertrophic Cardiomyopathy in Maine Coon Cats : An Animal Model of

J. Towbin, K. Meurs, M. Kittleson, 1999 .

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Alexander Hanbo Li, Mahshid S. Azamian, J. Rosenfeld, 2017, Genome Medicine.

Utility of Echocardiography in the Assessment of Left Ventricular Diastolic Function and Restrictive Physiology in Children and Young Adults with Restrictive Cardiomyopathy: A Comparative Echocardiography-Catheterization Study

J. Towbin, J. Jefferies, T. Ryan, 2017, Pediatric Cardiology.

Progress in Pediatric Cardiology

S. Colan, J. Towbin, S. Lipshultz, 2014 .

New Mechanistic and Therapeutic Targets for Pediatric Heart Failure: Report From a National Heart, Lung, and Blood Institute Working Group

B. Byrne, L. Leinwand, J. Towbin, 2014, Circulation.

PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13

R. Gibbs, J. Belmont, F. Yu, 2002, Human mutation.

Expression Levels of the Tnni3k Gene in the Heart Are Highly Associated with Cardiac and Glucose Metabolism-Related Phenotypes and Functional Pathways

J. Towbin, D. Ashbrook, A. Bajpai, 2023, International journal of molecular sciences.

The TMEM43 S358L mutation affects cardiac, small intestine, and metabolic homeostasis in a knock-in mouse model.

J. Towbin, Fuyi Xu, B. Boukens, 2023, American Journal of Physiology. Heart and Circulatory Physiology.

Echocardiography phenotyping in murine genetic reference population of BXD strains reveals significant eQTLs associated with cardiac function and morphology.

J. Towbin, A. Bajpai, Fuyi Xu, 2022, Physiological Genomics.

Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

S. Solomon, J. Seidman, W. Mckenna, 1994, The Journal of clinical investigation.

Haniye Sadat Sajadi, David L. Smith, Dan J Stein, 2018, Lancet.

Ventricular dysfunction and aortic dilation in patients with recessive dystrophic epidermolysis bullosa

J. Towbin, J. Jefferies, E. King, 2015, The British journal of dermatology.

Cardiomyopathies due to mutations in the myopalladin gene: Genotype–phenotype correlation

J. Towbin, T. Arimura, A. Kimura, 2011 .

J. Towbin, S. Ommen, R. Bonow, 2011 .

AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy : Executive summary

Christopher E. Buller, Judith S. Hochman, Harlan M. Krumholz, 2011 .

Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases:hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. A statement for healthcare professionals from the Councils on Clinical Cardiology, Cardiovascular Disea

A. Moss, J. Towbin, B. Maron, 1998, Circulation.

Management of hypertrophic cardiomyopathy.

M. Desai, J. Towbin, B. Maron, 1993, Heart disease and stroke : a journal for primary care physicians.

Diagnostic, Prognostic and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy

J. Towbin, M. J, M. J., 2010 .

Utilization and Safety of Long-Term Carvedilol in Pediatric Dilated Cardiomyopathy: A Multicenter Study from the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, J. Wilkinson, 2016 .

Abstract 16801: Improved Transplant-Free Survival of Children With Dilated Cardiomyopathy: Analysis of Two Decades From the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, J. Wilkinson, 2014 .

Ion channel dysfunction associated with arrhythmia, ventricular noncompaction, and mitral valve prolapse: a new overlapping phenotype.

J. Towbin, 2014 .

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

B. Gersh, J. Towbin, S. Ommen, 2006, Molecular genetics and metabolism.

Genetic basis of hypertrophic cardiomyopathy

J. Towbin, M. Vatta, R. N. Poley, 2018 .

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

J. Towbin, S. Ommen, D. Tester, 2006, Molecular genetics and metabolism.

Heart Failure in the Child and Young Adult: From Bench to Bedside

J. Towbin, J. Jefferies, R. Shaddy, 2017 .

Abstract 6071: Phenotypic Heterogeneity and Outcomes of Restrictive Cardiomyopathy in Childhood - A Report from the NHLBI Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2008 .

Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

G. Lanfranchi, M. Zaccolo, G. Danieli, 2007, BMC Medical Genetics.

Genetic Arrhythmias Complicating Patients with Dilated Cardiomyopathy: How it happens.

J. Towbin, 2020, Heart Rhythm.

Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy.

J. Towbin, M. Ackerman, J. Bos, 2009, Journal of the American College of Cardiology.

An American Heart Association Scientific Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Preventio

J. Baron, A. Moss, J. Towbin, 2006 .

Global, regional, and national comparative risk assessment of 84 behavioural, environmental and occupational, and metabolic risks or clusters of risks for 195 countries and territories, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017

Mohammad Hosein Farzaei, Fares Alahdab, Marcel Ausloos, 2018, Lancet.

Outcomes of Restrictive Cardiomyopathy in Childhood and the Influence of Phenotype: A Report From the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2012, Circulation.

Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life-Threatening Arrhythmias

L. Mestroni, J. Towbin, G. Barbati, 2015 .

How should hypertrophic cardiomyopathy be classified?: What's in a name? Dilemmas in nomenclature characterizing hypertrophic cardiomyopathy and left ventricular hypertrophy.

B. Gersh, J. Towbin, S. Ommen, 2009, Circulation. Cardiovascular genetics.

Genetic basis of hypertrophic cardiomyopathy

J. Towbin, M. Vatta, Xiaolei Xu, 2010 .

How Should Hypertrophic Cardiomyopathy Be Classified? What's in a Name? Dilemmas in Nomenclature Characterizing Hypertrophic Cardiomyopathy and Left Ventricular Hypertrophy Response by Elliott and Mckenna See P 86 Historical Context

J. Towbin, S. Ommen, M. Maron, 2022 .

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events: Implications for Mutation-Specific Response to &bgr;-Blocker Therapy in Type 1 Long-QT Syndrome

Derick R. Peterson, E. Kaufman, A. Moss, 2012, Circulation.

Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and marfan syndrome : A statement for healthcare professionals from the councils on clinical cardiology, cardiovascular dis

A. Moss, J. Towbin, B. Maron, 1998, Circulation.

Haniye Sadat Sajadi, Reed J. D. Sorensen, Joseph S. Salama, 2018, Lancet.

Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.

J. Towbin, C. Antzelevitch, M. Vatta, 1999, Circulation research.

Ionic Mechanisms Responsible for the Electrocardiographic Phenotype of the Brugada

J. Towbin, R. Dumaine, V. Nesterenko, 1999 .

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

G. Breithardt, J. Towbin, J. Brugada, 1998, Nature.

Design and implementation of the North American Pediatric Cardiomyopathy Registry.

S. Colan, S. Osganian, J. Towbin, 2000, American heart journal.

Long QT syndrome in adults.

Derick R. Peterson, Andrew J. Sauer, E. Kaufman, 2007, Journal of the American College of Cardiology.

Impact of Laboratory Molecular Diagnosis on Contemporary Diagnostic Criteria for Genetically Transmitted Cardiovascular Diseases : Hypertrophic Cardiomyopathy , Long-QT Syndrome , and Marfan Syndrome

J. Towbin, Maron, Moller, 1998 .

A novel Alu‐mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome

J. Towbin, M. Vatta, Harinder R. Singh, 2009, American journal of medical genetics. Part A.

α-1-Syntrophin Mutation and the Long-QT Syndrome: A Disease of Sodium Channel Disruption

A. Moss, J. Towbin, W. Shimizu, 2008, Circulation. Arrhythmia and electrophysiology.

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Derick R. Peterson, Jørgen K. Kanters, E. Kaufman, 2016, Circulation.

clinical aspects of type 3 long-Qt syndrome an international Multicenter study

Derick R. Peterson, E. Kaufman, J. Towbin, 2016 .

clinical aspects of type 3 long-Qt syndrome an international Multicenter study

Derick R. Peterson, E. Kaufman, J. Towbin, 2016 .

clinical aspects of type 3 long-Qt syndrome an international Multicenter study

Derick R. Peterson, E. Kaufman, J. Towbin, 2016 .

clinical aspects of type 3 long-Qt syndrome an international Multicenter study

Derick R. Peterson, E. Kaufman, J. Towbin, 2016 .

clinical aspects of type 3 long-Qt syndrome an international Multicenter study

Derick R. Peterson, E. Kaufman, J. Towbin, 2016 .

Early repolarization syndrome and the Brugada syndrome: forme frustes?

J. Towbin, 2001, European heart journal.

Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II.

R. Hauer, S. Priori, D. Roden, 1999, Circulation.

Chapter 67 – The Brugada Syndrome

J. Towbin, C. Antzelevitch, Ramón Brugada, 2004 .

D-transposition of the great arteries: the current era of the arterial switch operation.

M. Nathan, J. Towbin, T. Geva, 2014, Journal of the American College of Cardiology.

Treating children with idiopathic dilated cardiomyopathy (from the Pediatric Cardiomyopathy Registry).

S. Colan, J. Towbin, L. Sleeper, 2009, The American journal of cardiology.

Mutations in Cytoplasmic Loops of the Kcnq1 Channel and the Risk of Life-threatening Events Implications for Mutation-specific Response to ␤-blocker Therapy in Type 1 Long-qt Syndrome Methods Study Sample Phenotype Characterization Genotype Characterization Barsheshet Et Al Mutations in Cytoplasmic

Derick R. Peterson, E. Kaufman, J. Towbin, 2022 .

Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center

J. Towbin, W. Dreyer, J. Jefferies, 2013, Circulation.

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

G. Danieli, J. Towbin, G. Thiene, 2005, Cardiovascular research.

Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32.

J. Towbin, S. Daiger, A. Marian, 1995, Circulation.

Prospects for gene therapy for inherited cardiomyopathies.

J. Towbin, Towbin, K. Bowles, 2000, Progress in pediatric cardiology.

Haniye Sadat Sajadi, Vijay Kumar Chattu, Reed J. D. Sorensen, 2018, Lancet.

Tinman / Nkx 2-5 acts via miR-1 and upstream of Cdc 42 to regulate heart function across species

Joshua D. Wythe, K. Ocorr, R. Bodmer, 2011 .

Biomarkers of cardiovascular stress and fibrosis in preclinical hypertrophic cardiomyopathy

L. Mestroni, S. Colan, J. Towbin, 2017, Open Heart.

Global, regional, and national levels and causes of maternal mortality during 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.

Alan D. Lopez, Timothy M Wolock, Stephen S. Lim, 2014, Lancet.

Tinman / Nkx 2-5 acts via miR-1 and upstream of Cdc 42 to regulate heart function across species

Joshua D. Wythe, K. Ocorr, R. Bodmer, 2011 .

Malonyl Coenzyme A Decarboxylase Deficiency: Early Dietary Restriction and Time Course of Cardiomyopathy

J. Towbin, N. Leslie, R. Spicer, 2012, Pediatrics.

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Z. Ou, P. Stankiewicz, A. C. Chinault, 2008, Journal of Medical Genetics.

Genotype-phenotype aspects of type 2 long QT syndrome.

E. Kaufman, C. January, A. Moss, 2009, Journal of the American College of Cardiology.

Gunn Marit Aasvang, Daniel C. Casey, D. Mozaffarian, 2015, The Lancet.

Inherited cardiomyopathies.

J. Towbin, 2014, Circulation journal : official journal of the Japanese Circulation Society.

Utility of Left and Right Ventricular Strain in Arrhythmogenic Right Ventricular Cardiomyopathy: A Prospective Multicenter Registry

J. Towbin, J. Saffitz, S. Khurshid, 2023, Circulation. Cardiovascular imaging.

Estimates of global, regional, and national incidence, prevalence, and mortality of HIV, 1980–2015: the Global Burden of Disease Study 2015

Reed J. D. Sorensen, Timothy M Wolock, L. Dandona, 2016, The Lancet HIV.

Department Scorecard: A Tool to Help Drive Imaging Care Delivery

J. Towbin, L. Donnelly, L. Dumoulin, 2010 .

Global, regional, and national age–sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013

Bernadette A. Thomas, Alan D. Lopez, Mark D. Huffman, 2015, The Lancet.

Molecular Genetics of Cardiac Electrophysiology

J. Towbin, C. Berul, 2000, Developments in Cardiovascular Medicine.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

Cardiovascular Health Promotion in Children: Challenges and Opportunities for 2020 and Beyond A Scientific Statement From the American Heart Association

S. Daniels, J. Towbin, D. Lloyd‐Jones, 2016, Circulation.

Outcomes among pediatric heart transplant recipients.

J. Towbin, H. Rosenblatt, S. Denfield, 1997, Texas Heart Institute journal.

Postpericardiotomy Syndrome in Pediatric Heart Transplant Recipients Immunologic Characteristics

Rn, J. Towbin, O. Frazier, 2022 .

Global, Regional, and National Levels of Maternal Mortality, 1990–2015: A Systematic Analysis for the Global Burden of Disease Study 2015

Ashutosh Kumar Singh, Reed J. D. Sorensen, Alan D. Lopez, 2017, Obstetrical & Gynecological Survey.

Genetic and Molecular Basis of Cardiac Arrhythmias: Impact on Clinical

S. Priori, J. Towbin, Peter J. Schwartz, 2022 .

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.

J. Towbin, T. Arimura, A. Sato, 2009, Journal of the American College of Cardiology.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

J. Towbin, I. Nonaka, Y. Hayashi, 2017, American journal of human genetics.

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus

J. Towbin, E. McCabe, W. Seltzer, 1989, Human Genetics.

Ion channel dysfunction associated with arrhythmia, ventricular noncompaction, and mitral valve prolapse: a new overlapping phenotype.

J. Towbin, 2014, Journal of the American College of Cardiology.

Genetic basis of inherited cardiomyopathies.

J. Towbin, K. Schowengerdt, 1995, Current opinion in cardiology.

PROGRESSIVE LEFT VENTRICULAR CHANGES PREDICT THE LIKELIHOOD OF SURVIVAL IN PEDIATRIC DILATED CARDIOMYOPATHY: FINDINGS FROM THE PEDIATRIC CARDIOMYOPATHY REGISTRY

S. Colan, J. Towbin, E. Orav, 2012 .

Abstract 4956: A Risk Stratification Analysis of Predictors of Death or Transplant in Children with Hypertrophic Cardiomyopathy

S. Colan, J. Towbin, E. Orav, 2008 .

Outcomes of Restrictive Cardiomyopathy in Childhood and the Influence of Phenotype A Report From the Pediatric Cardiomyopathy Registry

S. Colan, J. Towbin, L. Sleeper, 2012 .

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

J. Towbin, F. Scaglia, Dawna L. Armstrong, 2002, BMC pediatrics.

International Society for Heart and Lung Transplantation: Practice guidelines for management of heart failure in children.

J. Towbin, D. Bernstein, S. Berger, 2004, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Cardiac arrhythmias: the genetic connection.

J. Towbin, 2000, Journal of cardiovascular electrophysiology.