C. Seidman

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A public resource facilitating clinical use of genomes

Euan A Ashley, Jong Bhak, Leonid Peshkin, 2012, Proceedings of the National Academy of Sciences.

Single-Cell Resolution of Temporal Gene Expression during Heart Development.

J. Seidman, B. Bruneau, W. Pu, 2016, Developmental cell.

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

W. Chung, Yufeng Shen, M. Yandell, 2019, Nature Communications.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Yufeng Shen, Alessandro Giardini, Hongyu Zhao, 2017, Nature Genetics.

De novo mutations in histone modifying genes in congenital heart disease

Murim Choi, Hongyu Zhao, Alexander E. Lopez, 2013, Nature.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Monte Westerfield, Wendy S. Rubinstein, Gregory M. Cooper, 2017, Cell.

Cells of the adult human heart

Catherine L. Worth, Hao Zhang, S. Teichmann, 2020, Nature.

Polony Multiplex Analysis of Gene Expression (PMAGE) in Mouse Hypertrophic Cardiomyopathy

G. Church, J. Seidman, C. Seidman, 2007, Science.

Dissecting spatio-temporal protein networks driving human heart development and related disorders

Francisco S. Roque, S. Brunak, J. Seidman, 2010, Molecular systems biology.

Genetics of congenital heart disease: the glass half empty.

J. Seidman, B. Gelb, C. Seidman, 2013, Circulation research.

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

Ayellet V. Segrè, M. Daly, J. Rosenfeld, 2012, Proceedings of the National Academy of Sciences.

Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

R. Kucherlapati, C. Seidman, Craig T. Basson1, 1997, Nature Genetics.

Congenital heart disease caused by mutations in the transcription factor NKX2-5.

J. Seidman, B. Maron, C. Seidman, 1998, Science.

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

J. Seidman, C. Seidman, J. Kugler, 1999, The Journal of clinical investigation.

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

J. Seidman, W. Crowley, C. Seidman, 1997, The Journal of clinical endocrinology and metabolism.

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

S. Gabriel, D. Altshuler, J. Hirschhorn, 2012, American journal of human genetics.

The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication

C. Seidman, C. Macrae, Stephanie Harris, 2019, Molecular genetics & genomic medicine.

Contemporary Definitions and Classification of the Cardiomyopathies

A. Moss, J. Towbin, C. Antzelevitch, 2006 .

ViroFind: A novel target-enrichment deep-sequencing platform reveals a complex JC virus population in the brain of PML patients

J. Seidman, C. Seidman, D. McKean, 2018, PloS one.

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Matthew S. Lebo, J. Seidman, H. Rehm, 2015, Genetics in Medicine.

Increased &agr;2 Subunit–Associated AMPK Activity and PRKAG2 Cardiomyopathy

Ferhaan Ahmad, J. Seidman, C. Seidman, 2005, Circulation.

Truncations of titin causing dilated cardiomyopathy.

L. Mestroni, J. Seidman, D. Pennell, 2012, The New England journal of medicine.

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Tan Ru San, S. Gabriel, F. Cunningham, 2015, Science Translational Medicine.

A common genetic variant within SCN10A modulates cardiac SCN5A expression.

J. Seidman, M. Nóbrega, C. Seidman, 2014, The Journal of clinical investigation.

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

J. Seidman, F. Muntoni, D. Fatkin, 1999, The New England journal of medicine.

Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome.

J. Seidman, C. Tabin, B. Bruneau, 1999, Developmental biology.

Connexin 40, a Target of Transcription Factor Tbx5, Patterns Wrist, Digits, and Sternum

J. Seidman, B. Bruneau, C. Seidman, 2005, Molecular and Cellular Biology.

De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot

Joshua M. Korn, Philip L De Jager, Steven A McCarroll, 2009, Nature Genetics.

Biochemistry and genetics of Klebsiella pneumoniae mutant strains unable to fix N2

W. Brill, H. Johnston, D. Garfinkel, 1975, Journal of bacteriology.

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

John Atherton, Siegfried Labeit, Henk Granzier, 2002, Nature Genetics.

Spectrum of somatic mitochondrial mutations in five cancers

Lynda Chin, Alexei Protopopov, Christine E Seidman, 2012, Proceedings of the National Academy of Sciences.

A Molecular Pathway Including Id2, Tbx5, and Nkx2-5 Required for Cardiac Conduction System Development

J. Shendure, J. Seidman, M. Nóbrega, 2007, Cell.

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. Developed in collaboration with the American Association for Thoracic Surgery, American Soci

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

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, The Journal of thoracic and cardiovascular surgery.

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

Christine E. Seidman, Stefan Heller, Saumil N. Merchant, 1998, Nature Genetics.

Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.

C. Seidman, J. Schönberger, 2001, American journal of human genetics.

The Pleiotropic Effects of Statins : Fact or Fantasy ?

S. Solomon, M. Sabatine, R. Kwong, 2022 .

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

Isaac S Kohane, Sek Won Kong, Heidi L Rehm, 2014, Trials.

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale

Ivana V. Yang, Andrew D. Johnson, Ryan D. Hernandez, 2020, Nature Genetics.

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

J. Seidman, S. Weremowicz, R. Bruzzone, 1999, Proceedings of the National Academy of Sciences of the United States of America.

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

Matthew S. Lebo, Isaac S Kohane, Heidi L Rehm, 2014, BMC Medical Genetics.

Genome-wide identification of mouse congenital heart disease loci.

Karen L Svenson, Monica J Justice, Kathryn E. Hentges, 2010, Human molecular genetics.

A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5.

J. Seidman, C. Seidman, C. Berul, 2002, Cold Spring Harbor symposia on quantitative biology.

Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban

Ulrike Mende, Christine E Seidman, Ferhaan Ahmad, 2003, Science.

Comparative Proteomics Profiling of a Phospholamban Mutant Mouse Model of Dilated Cardiomyopathy Reveals Progressive Intracellular Stress Responses*S

Andrew Emili, Anitha Kannan, Thomas Kislinger, 2008, Molecular & Cellular Proteomics.

A molecular basis for familial hypertrophic cardiomyopathy: An α β cardiac myosin heavy chain hybrid gene

S. Solomon, J. Seidman, C. Seidman, 1990, Cell.

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

J. Seidman, E. Brown, C. Seidman, 1995, Nature Genetics.

Sarcomere protein gene mutations: A frequent cause of elderly-onset hypertrophic cardiomyopathy.

J. Seidman, B. Maron, C. Seidman, 2000 .

Shared genetic causes of cardiac hypertrophy in children and adults.

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

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

J. Seidman, M. Bitner-Glindzicz, Xiangyin Kong, 2010, American journal of human genetics.

The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle

J. Seidman, S. Aranki, M. Heydarpour, 2017, Circulation. Cardiovascular genetics.

Role of Cardiac Myosin Binding Protein C in Sustaining Left Ventricular Systolic Stiffening

D. Kass, J. Seidman, Y. Wang, 2004, Circulation research.

T cell responses in calcineurin A alpha-deficient mice

F. Alt, J. Seidman, Jianzhu Chen, 1996, The Journal of experimental medicine.

T cell responses in calcineurin A alpha-deficient mice

E. A. O'neill, Wei Zhang, F. Alt, 1996, The Journal of experimental medicine.

Prevention of Ventricular Arrhythmia and Calcium Dysregulation in a Catecholaminergic Polymorphic Ventricular Tachycardia Mouse Model Carrying Calsequestrin‐2 Mutation

J. Seidman, C. Seidman, C. Berul, 2011, Journal of cardiovascular electrophysiology.

Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy.

E. Ashley, S. Colan, L. Leinwand, 2020, Circulation. Genomic and precision medicine.

Novel Therapies for Prevention and Early Treatment of Cardiomyopathies.

J. Seidman, C. Seidman, Christopher N Toepfer, 2019, Circulation research.

Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics

J. Seidman, C. Seidman, R. Alcalai, 2007, Journal of cardiovascular electrophysiology.

Genetics of pediatric cardiomyopathies

W. Chung, C. Seidman, S. Ware, 2017, Progress in pediatric cardiology.

Polycomb Repressive Complex 2 Regulates Normal Development of the Mouse Heart

P. Cahan, G. Daley, J. Seidman, 2012, Circulation research.

Introduction of plasmid DNA into cells.

K. Struhl, C. Seidman, 2001, Current protocols in protein science.

Introduction of plasmid DNA into cells.

K. Struhl, C. Seidman, J. Sheen, 2001, Current protocols in molecular biology.

Early remodeling of repolarizing K+ currents in the αMHC403/+ mouse model of familial hypertrophic cardiomyopathy.

J. Nerbonne, J. Seidman, C. Seidman, 2017, Journal of molecular and cellular cardiology.

Engineering a living cardiac pump on a chip using high-precision fabrication

J. Seidman, C. Seidman, K. Ekinci, 2022, Science advances.

Neonatal atria and ventricles secrete atrial natriuretic factor via tissue-specific secretory pathways

J. Seidman, J. Fallon, C. Seidman, 1986, Cell.

Marked Up-Regulation of ACE2 in Hearts of Patients With Obstructive Hypertrophic Cardiomyopathy: Implications for SARS-CoV-2–Mediated COVID-19

J. Seidman, P. Noseworthy, A. Oberg, 2020, Mayo Clinic Proceedings.

Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm

Christopher R. Weber, M. Zhang, J. Seidman, 2016, Science Translational Medicine.

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

S. Solomon, J. Seidman, C. Seidman, 2001, The New England journal of medicine.

Hypertrophic cardiomyopathy: Translating cellular cross talk into therapeutics

Christine E. Seidman, J. Seidman, C. Seidman, 2012, The Journal of cell biology.

An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy.

James O. Mudd, J. Seidman, D. Fatkin, 2000, The Journal of clinical investigation.

An abnormal Ca2+ response in mutant sarcomere protein–mediated familial hypertrophic cardiomyopathy

James O. Mudd, J. Seidman, D. Fatkin, 2000 .

Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex.

J. Seidman, Y. Wang, D. Fatkin, 2008, American journal of physiology. Heart and circulatory physiology.

Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy

J. Seidman, E. Olson, C. Seidman, 2010, Proceedings of the National Academy of Sciences.

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

R. Green, J. Seidman, H. Rehm, 2016, Science Translational Medicine.

Erratum: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome

J. Seidman, R. Kucherlapati, C. Seidman, 1997, Nature Genetics.

Cardiomyopathy in Irx4-Deficient Mice Is Preceded by Abnormal Ventricular Gene Expression

D. Kass, N. Rosenthal, J. Seidman, 2001, Molecular and Cellular Biology.

Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy.

Amanda C. Garfinkel, J. Seidman, C. Seidman, 2018, Heart failure clinics.

Molecular Genetics: New Mutations that Cause Familial Hypertrophic Cardiomyopathy

J. Seidman, H. Watkins, C. Seidman, 1995 .

Genetics of hypertrophic cardiomyopathy

J. Seidman, C. Seidman, T. Konno, 2010, Current opinion in cardiology.

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

K. B. Manheimer, W. Chung, J. Seidman, 2020, Genome Medicine.

Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice.

J. Seidman, C. Seidman, C. Berul, 1997, The Journal of clinical investigation.

Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation

J. Seidman, C. Seidman, H. Wakimoto, 2021, Frontiers in Cardiovascular Medicine.

Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

Ossama K. Abou Hassan, J. Seidman, J. Ware, 2020, Circulation. Genomic and precision medicine.

The Translational Landscape of the Human Heart

Catherine L. Worth, S. V. Heesch, J. Seidman, 2019, Cell.

A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance

J. Seidman, F. Braet, C. Hayward, 2018, Circulation. Genomic and precision medicine.

Telomere shortening is a hallmark of genetic cardiomyopathies

E. Ashley, J. Seidman, H. Blau, 2018, Proceedings of the National Academy of Sciences.

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Parth N. Patel, J. Seidman, D. Fatkin, 2017, Proceedings of the National Academy of Sciences.

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

Craig C. Benson, W. Chung, J. Seidman, 2016 .

Using Next-generation RNA Sequencing to Examine Ischemic Changes Induced by Cold Blood Cardioplegia on the Human Left Ventricular Myocardium Transcriptome

J. Seidman, S. Aranki, M. Heydarpour, 2015, Anesthesiology.

Targeted ablation of the murine alpha-tropomyosin gene.

J. Seidman, C. Seidman, D. Maughan, 1997, Circulation research.

Targeted Ablation of the Murine α-Tropomyosin Gene

J. Seidman, C. Seidman, D. Maughan, 1997 .

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

J. Seidman, J. Saul, W. Roberts, 2009, JAMA.

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

Ferhaan Ahmad, C. Seidman, B. McDonough, 2012, BMC Medical Genetics.

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

Ferhaan Ahmad, C. Seidman, B. McDonough, 2012, BMC Medical Genetics.

NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity

J. Seidman, C. Seidman, S. DePalma, 2015, Scientific Reports.

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Ivana V. Yang, Zhaohui S. Qin, Andrew D. Johnson, 2018, Nature Communications.

Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.

J. Seidman, D. Fatkin, R. Eavey, 2000, Circulation.

Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development

Gerald C. Chu, J. Seidman, W. Pu, 2011, Proceedings of the National Academy of Sciences.

A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene.

S. Solomon, J. Seidman, C. Seidman, 1990, Cell.

Genomewide Linkage in a Large Caucasian Family Maps a New Locus for Intracranial Aneurysms to Chromosome 13q

J. Seidman, C. Seidman, S. DePalma, 2009, Stroke.

Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.

M. Waldenberger, H. Hakonarson, K. Strauch, 2021, European heart journal.

An RNA‐seq protocol to identify mRNA expression changes in mouse diaphyseal bone: Applications in mice with bone property altering Lrp5 mutations

J. Seidman, A. Robling, C. Seidman, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system

J. Seidman, B. Bruneau, D. Roden, 2004, Development.

Summary The T-Box transcription factor Tbx 5 is required for the patterning and maturation of the murine cardiac conduction system

J. Seidman, B. Bruneau, D. Roden, 2004 .

Early post-zygotic mutations contribute to congenital heart disease

K. B. Manheimer, W. Chung, J. Seidman, 2019, bioRxiv.

SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes

Masahiro Yoshida, Fabian J. Theis, Oliver Eickelberg, 2020, Nature Medicine.

Nucleotide sequences of the human and mouse atrial natriuretic factor genes.

K. A. Klein, J. Seidman, C. Seidman, 1984, Science.

In Vivo and In Vitro Methods to Identify DNA Sequence Variants that Alter RNA Splicing

Parth N. Patel, C. Seidman, J. Gorham, 2018, Current protocols in human genetics.

THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

J. Seidman, D. Milewicz, C. Seidman, 2016, Stroke.

Functional Characterization of a Novel Mutation in NKX2-5 Associated With Congenital Heart Disease and Adult-Onset Cardiomyopathy

Milena B. Furtado, Mauro W. Costa, N. Rosenthal, 2013, Circulation. Cardiovascular genetics.

The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results

W. Chung, L. Sleeper, B. Gelb, 2013 .

The Good SHP 2 Association : A Porthole Into the Genetics of Congenital Heart Disease

B. Gelb, C. Seidman, 2012 .

A Porthole Into the Genetics of Congenital Heart Disease

B. Gelb, C. Seidman, 2012 .

The Good SHP2 Association: a porthole into the genetics of congenital heart disease.

B. Gelb, C. Seidman, 2012, Circulation. Cardiovascular genetics.

A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy.

J. Seidman, D. Fatkin, C. Seidman, 2001, Journal of molecular and cellular cardiology.

Eya4 regulation of Na+/K+-ATPase is required for sensory system development in zebrafish

L. Zon, J. Seidman, C. Seidman, 2008, Development.

Eya4-deficient mice are a model for heritable otitis media.

J. Seidman, R. Eavey, M. Liberman, 2008, The Journal of clinical investigation.

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss

L. Zon, J. Seidman, A. Mungall, 2005, Nature Genetics.

Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease.

J. Seidman, P. Grant, D. Wypij, 2019, Cerebral cortex.

Treatment of Hypertrophic Cardiomyopathy

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

Pathway Genes in Familial Cases of Intracranial Aneurysm β Sequencing of TGF-Print

J. Seidman, D. Milewicz, C. Seidman, 2009 .

Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.

J. Seidman, D. Milewicz, C. Seidman, 2009, Stroke.

Sequencing of TGF- Pathway Genes in Familial Cases of Intracranial Aneurysm

D. Milewicz, C. Seidman, T. Santiago-Sim, 2009 .

Valsartan in early-stage hypertrophic cardiomyopathy: a randomized phase 2 trial

Amit R. Patel, Akshay S. Desai, L. Mestroni, 2021, Nature Medicine.

J. Seidman, T. Kurtz, C. Seidman, 2011, Physiological genomics.

Localized expression of the atrial natriuretic factor gene during cardiac embryogenesis.

R. Arceci, R. Zeller, C. Seidman, 1987, Genes & development.

Different Transcriptomic Response to T. cruzi Infection in hiPSC-Derived Cardiomyocytes From Chagas Disease Patients With and Without Chronic Cardiomyopathy

J. Seidman, J. Krieger, C. Seidman, 2022, Frontiers in Cellular and Infection Microbiology.

Pheochromocytoma-Induced Cardiomyopathy is Modulated by the Synergistic Effects of Cell-Secreted Factors

J. Seidman, E. Edelman, A. Baker, 2009, Circulation. Heart failure.

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

K. B. Manheimer, W. Chung, J. Seidman, 2017, bioRxiv.

The Molecular Genetics of Familial Hypertrophic Cardiomyopathy

H. Watkins, C. Seidman, W. McKenna, 1993 .

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients

J. Seidman, S. Cook, A. de Marvao, 2020, Circulation. Genomic and precision medicine.

Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene.

S. Solomon, P. Ridker, H. Watkins, 1993, Journal of the American College of Cardiology.

Dynamic tissue-speci c H2Bub1 is required for human and mouse cardiogenesis

J. Seidman, C. Seidman, Sidi Chen, 2022 .

Regulation of chamber-specific gene expression in the developing heart by Irx4.

J. Seidman, B. Bruneau, C. Cepko, 1999, Science.

Exercise Training Improves Cardiac Function and Attenuates Arrhythmia in Cpvt Mice Experimental Protocol

J. Seidman, C. Seidman, M. Eldar, 2022 .

Myocardial Iron Deficiency and Mitochondrial Dysfunction in Advanced Heart Failure in Humans

J. Seidman, C. Seidman, J. Seubert, 2022, Journal of the American Heart Association.

Cardiac-enriched BAF chromatin-remodeling complex subunit Baf60c regulates gene expression programs essential for heart development and function

J. Seidman, J. Rossant, B. Bruneau, 2017, Biology Open.

CLINICAL STUDIES Hypertrophic Cardiomyopathy Development of Left Ventricular Hypertrophy in Adults With Hypertrophic Cardiomyopathy Caused by Cardiac Myosin-Binding Protein C Gene Mutations

J. Seidman, B. Maron, C. Seidman, 2001 .

Alterations of Phospholamban Function Can Exhibit Cardiotoxic Effects Independent of Excessive Sarcoplasmic Reticulum Ca2+-ATPase Inhibition

Ferhaan Ahmad, J. Schmitt, J. Seidman, 2009, Circulation.

BET Bromodomain Proteins Regulate Transcriptional Reprogramming in Genetic Dilated Cardiomyopathy

Saptarsi M. Haldar, Michael A. Burke, J. Seidman, 2020, bioRxiv.

Detection of Cell Proliferation Markers by Immunofluorescence Staining and Microscopy Imaging in Paraffin‐Embedded Tissue Sections

J. Seidman, C. Seidman, S. Eminaga, 2016, Current protocols in molecular biology.

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects

J. Seidman, C. Seidman, N. El-Hachem, 2017, Front. Genet..

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects

J. Seidman, C. Seidman, N. El-Hachem, 2017, Front. Genet..

A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34.

J. Seidman, L. Donoso, C. Seidman, 1994, Archives of ophthalmology.

LAMP2 Cardiomyopathy: Consequences of Impaired Autophagy in the Heart

J. Seidman, W. Roberts, B. Maron, 2021, Journal of the American Heart Association.

Clinical Outcome and Phenotypic Expression in LAMP 2 Cardiomyopathy

J. Seidman, J. Saul, W. Roberts, 2009 .

FUNCTIONAL CHARACTERIZATION OF A NOVEL MUTATION IN NKX 2-5 ASSOCIATED WITH CONGENITAL HEART DISEASE AND ADULT-ONSET CARDIOMYOPATHY . Costa : NKX 2-5 mutation in familial DCM

Milena B. Furtado, Mauro W. Costa, J. Seidman, 2015 .

The Role of the L-Type Ca2+ Channel in Altered Metabolic Activity in a Murine Model of Hypertrophic Cardiomyopathy

Victoria P. A. Johnstone, J. Seidman, C. Seidman, 2016, JACC. Basic to translational science.

Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy

J. F. Staples, E. Ashley, S. Colan, 2020, Circulation.

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

J. Seidman, C. Seidman, A. Perez-Atayde, 2002, The Journal of clinical investigation.

Increased glycogen stores due to gamma-AMPK overexpression protects against ischemia and reperfusion damage.

J. Seidman, D. Freimark, C. Seidman, 2008, Biochemical pharmacology.

Electrophysiologic Characteristics of Accessory Atrioventricular Connections in an Inherited Form of Wolff‐Parkinson‐White Syndrome

J. Seidman, D. Fatkin, J. Dimarco, 1999, Journal of cardiovascular electrophysiology.

IL-12 is required for differentiation of pathogenic CD8+ T cell effectors that cause myocarditis.

Ferhaan Ahmad, J. Seidman, C. Seidman, 2003, The Journal of clinical investigation.

Atrial natriuretic factor: assessment of its structure in atria and regulation of its biosynthesis with volume depletion.

J. Seidman, J. Fallon, C. Seidman, 1986, Journal of molecular and cellular cardiology.

Cardiac Myosin-Binding Protein-C Phosphorylation and Cardiac Function

J. Seidman, G. Dorn, C. Seidman, 2005, Circulation research.

Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis

Vassilios J. Bezzerides, J. Seidman, W. Pu, 2022, Circulation. Genomic and precision medicine.

&bgr;-Myosin Heavy Chain Variant Val606Met Causes Very Mild Hypertrophic Cardiomyopathy in Mice, but Exacerbates HCM Phenotypes in Mice Carrying Other HCM Mutations

J. Schmitt, J. Seidman, M. Lohse, 2014, Circulation research.

Atrial natriuretic factor gene expression in ventricles of rats with spontaneous biventricular hypertrophy.

M. Pfeffer, E. Neer, C. Seidman, 1988, The Journal of clinical investigation.

Tbx5 Is Required for Avian and Mammalian Epicardial Formation and Coronary Vasculogenesis

O. Elemento, J. Seidman, C. Seidman, 2014, Circulation research.

Effect of Cardiac Myosin Binding Protein-C on Mechanoenergetics in Mouse Myocardium

J. Seidman, Y. Wang, N. Alpert, 2004, Circulation research.

Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice.

D. Kass, J. Seidman, D. Turnbull, 1999, The Journal of clinical investigation.

Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C

J. Seidman, N. Alpert, T. Irving, 2004, Molecular and Cellular Biochemistry.

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

W. Chung, J. Seidman, A. Sharp, 2020, PLoS genetics.

Cardiac myosin binding protein c phosphorylation is cardioprotective

J. Seidman, C. Seidman, J. Lorenz, 2006, Proceedings of the National Academy of Sciences.

The Role of Cardiac Troponin T Quantity and Function in Cardiac Development and Dilated Cardiomyopathy

Stephen H. Smith, Ferhaan Ahmad, J. Seidman, 2008, PloS one.

Cis-acting sequences that modulate atrial natriuretic factor gene expression.

J. Seidman, C. Seidman, D. Wong, 1988, Proceedings of the National Academy of Sciences of the United States of America.

The structure of rat preproatrial natriuretic factor as defined by a complementary DNA clone.

J. Seidman, C. Seidman, R. Graham, 1984, Science.

Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy.

J. Seidman, L. Leinwand, C. Seidman, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Biosynthesis and secretion of proatrial natriuretic factor by cultured rat cardiocytes.

J. Seidman, J. Fallon, M. N. Margolies, 1985, Science.

Yin Yang 1 Suppresses Dilated Cardiomyopathy and Cardiac Fibrosis Through Regulation of Bmp7 and Ctgf.

J. Seidman, C. Seidman, H. Wakimoto, 2019, Circulation research.

Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand.

J. Seidman, B. Bruneau, C. Cepko, 2000, Developmental biology.

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies

Catherine L. Worth, S. Teichmann, J. Seidman, 2022, Science.

An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations

J. Seidman, R. Eavey, C. Seidman, 2022, Proceedings of the National Academy of Sciences of the United States of America.

The coming of age of cardiovascular science.

J. Seidman, C. Seidman, 2002, Cold Spring Harbor symposia on quantitative biology.

Proximal Regulatory Domains of Rat Atrial Natriuretic Factor Gene

J. Seidman, C. Seidman, T. Halazonetis, 1991, Circulation.

MYBPC3 Mutations cause Hypertrophic Cardiomyopathy by Dysregulating Myosin: Implications for Therapy

J. Seidman, H. Watkins, C. Seidman, 2018, bioRxiv.

Alpha 1-adrenergic receptor mRNA level is regulated by norepinephrine in rabbit aortic smooth muscle cells.

C. Seidman, S. Collins, W. Colucci, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers

Michael A. Burke, J. Seidman, B. Maron, 2020, Open Heart.

Molecular Studies of the Atrial Natriuretic Factor Gene

J. Seidman, C. Seidman, R. Graham, 1985, Hypertension.

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.

Familial Hypertrophic Cardiomyopathy Mice Display Gender Differences in Electrophysiological Abnormalities

J. Seidman, C. Seidman, C. Berul, 1997, Journal of Interventional Cardiac Electrophysiology.

Congenital Heart Defects Due to TAF1 Missense Variants.

Jill A. Madden, J. Seidman, C. Brownstein, 2020, Circulation Genomic and Precision Medicine.

A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.

C. Seidman, N. Lindor, M. McEvoy, 1997, Mayo Clinic proceedings.

Altered hepatic transport of immunoglobulin A in mice lacking the J chain

J. Seidman, C. Seidman, E. E. Max, 1995, The Journal of experimental medicine.

Neither cardiac mitochondrial DNA variation or copy number contribute to congenital heart disease risk

J. Seidman, Yufeng Shen, D. Bernstein, 2022, The American Journal of Human Genetics.

CD36 overexpression predisposes to arrhythmias but reduces infarct size in spontaneously hypertensive rats: gene expression profile analysis.

J. Seidman, T. Kurtz, C. Seidman, 2012, Physiological genomics.

UBQLN2 mutation causing heterogeneous X‐linked dominant neurodegeneration

J. Seidman, C. Seidman, A. Bick, 2014, Annals of neurology.

Genetic analysis of susceptibility to experimental autoimmune encephalomyelitis in a cross between SJL/J and B10.S mice.

J. Seidman, H. Weiner, V. Kuchroo, 1996, Journal of immunology.

Regulation of murine fetal-placental calcium metabolism by the calcium-sensing receptor.

J. Seidman, C. Seidman, B. Lanske, 1998, The Journal of clinical investigation.

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

W. Chung, R. Lifton, B. Gelb, 2019, Proceedings of the National Academy of Sciences.

Progress in familial hypertrophic cardiomyopathy: molecular genetic analyses in the original family studied by Teare.

J. Seidman, H. Watkins, C. Seidman, 1992, British heart journal.

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

J. Seidman, E. Brown, C. Seidman, 1995, Pediatric Nephrology.

Adult Hallervorden–Spatz syndrome simulating amyotrophic lateral sclerosis

J. Seidman, C. Seidman, B. McDonough, 2003, Muscle & nerve.

Atrial natriuretic factor and related peptide hormones.

C. Seidman, A. Rosenzweig, 1991, Annual review of biochemistry.

Accelerated Cardiomyopathy in Mice With Overexpression of Cardiac Gsα and a Missense Mutation in the α-Myosin Heavy Chain

J. Seidman, S. Vatner, C. Seidman, 2002 .

Accelerated cardiomyopathy in mice with overexpression of cardiac G(s)alpha and a missense mutation in the alpha-myosin heavy chain.

J. Seidman, S. Vatner, C. Seidman, 2002, Circulation.

QT Dispersion in α-Myosin Heavy-Chain Familial Hypertrophic Cardiomyopathy Mice

J. Seidman, C. Seidman, C. Berul, 1999, Pediatric Research.

Corrigendum to “Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis” [Dev. Biol. 297 (2006) 566–586]

J. Seidman, B. Bruneau, R. Henkelman, 2007 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Consequences of Pressure Overload on Sarcomere Protein Mutation-Induced Hypertrophic Cardiomyopathy

Richard T. Lee, Ferhaan Ahmad, J. Schmitt, 2003, Circulation.

Heritable Cardiac Conduction and Myocardial Disease: From the Clinic to the Basic Science Laboratory and Back to the Clinic

C. Seidman, S. Raman, H. Boudoulas, 2011, Cardiology.

Introduction of Plasmid DNA into Cells

K. Struhl, C. Seidman, Kevin Struhl, 2000, Current protocols in neuroscience.

A De Novo Mutation in α-Tropomyosin That Causes Hypertrophic Cardiomyopathy

J. Seidman, H. Watkins, C. Seidman, 1995 .

Genome-wide association study for Chagas Cardiomyopathy identify a new risk locus on chromosome 18 associated with an immune-related protein and transcriptional signature

J. Seidman, J. Krieger, C. Seidman, 2022, PLoS neglected tropical diseases.

Accelerated Cardiomyopathy in Mice With Overexpression of Cardiac G s (cid:1) and a Missense Mutation in the (cid:1) -Myosin Heavy Chain

J. Seidman, S. Vatner, C. Seidman, 2002 .

Sequencing of TGF- (cid:1) Pathway Genes in Familial Cases of Intracranial Aneurysm

J. Seidman, D. Milewicz, C. Seidman, 2009 .

Multiplexed Single‐Nucleus RNA Sequencing Using Lipid‐Oligo Barcodes

J. Seidman, C. Seidman, Tarsha L Ward, 2022, Current protocols.

Natriuretic Peptide System Gene Variants Are Associated with Ventricular Dysfunction after Coronary Artery Bypass Grafting

J. Seidman, S. Aranki, T. Meitinger, 2009, Anesthesiology.

Missense mutation in the pore region of HERG causes familial long QT syndrome.

J. Seidman, C. Seidman, E. Walsh, 1996, Circulation.

Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy.

Barry J Maron, Christine E Seidman, J. Seidman, 2004, Journal of the American College of Cardiology.

Causes of clinical diversity in human TBX5 mutations.

J. Seidman, C. Seidman, C. Basson, 2002, Cold Spring Harbor symposia on quantitative biology.

Review: Molecular Approaches to the Study of Atrial Natriuretic Factor

C. Seidman, K. Bloch, 1987 .

Contemporary Evaluation and Management of Hypertrophic Cardiomyopathy

E. Braunwald, C. Seidman, U. Sigwart, 2002, Circulation.

Diastolic Dysfunction and Altered Energetics in the a MHC 403 / 1 Mouse Model of Familial Hypertrophic Cardiomyopathy

J. Seidman, C. Seidman, J. Ingwall, 1998 .

A Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1-mediated Trabeculation Cessation

J. Seidman, J. Cook, F. Conlon, 2022, bioRxiv.

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

H Niimura, A E Chudley, J. Seidman, 1998, The New England journal of medicine.

Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community The Epidemiology

J. Hirschhorn, J. Seidman, E. Benjamin, 2006 .

Late-onset primary LVHHCM versus cardiac fabry variant: reply

J. Seidman, B. Maron, C. Seidman, 2002 .

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Ryan D. Hernandez, May E. Montasser, Min A. Jhun, 2018, Nature Communications.

Molecular Genetics of Lidocaine-Containing Cardioplegia in the Human Heart During Cardiac Surgery.

J. Seidman, S. Aranki, M. Heydarpour, 2018, The Annals of thoracic surgery.

SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes

Fabian J Theis, D. Pe’er, A. Regev, 2020, Nature Medicine.

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.

cis-dominance of rat atrial natriuretic factor gene regulatory sequences in transgenic mice.

J. Seidman, C. Seidman, E. V. Schmidt, 1991, Canadian journal of physiology and pharmacology.

Sarcomere Protein Mutations Cause Dilated Cardiomyopathy

S. Solomon, J. Seidman, C. Seidman, 2001 .

Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function.

J. Seidman, C. Seidman, N. Greenfield, 1997, Biochemistry.

Echocardiography and Cardiac MRI in Mutation‐Negative Hypertrophic Cardiomyopathy in an Older Patient: A Case Defining the Need for ICD

C. Seidman, K. Degnan, J. Mangion, 2014, Echocardiography.

Genetic testing for dilated cardiomyopathy in clinical practice.

Nicole M. Johnson, W. Chung, J. Seidman, 2012, Journal of cardiac failure.

The Transcriptional Signature of Growth in Human Fetal Aortic Valve Development.

J. Seidman, C. Seidman, J. Gorham, 2018, The Annals of thoracic surgery.

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.

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Gloria L. Porras-Hurtado, J. Seidman, R. Eavey, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse model

J. Seidman, L. Leinwand, N. Hübner, 2022, Proceedings of the National Academy of Sciences of the United States of America.

A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

J. Schmitt, J. Seidman, B. Bruneau, 2001, Cell.

Identiﬁcation of genetic loci associated with paralysis, inﬂammation and weight loss in mouse experimental autoimmune encephalomyelitis

J. Seidman, H. Weiner, V. Kuchroo, 2001 .

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

E. Ashley, S. Colan, C. Caleshu, 2018, Circulation.

Response by Ho et al to Letter Regarding Article, "Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)".

E. Ashley, S. Colan, J. Ware, 2019, Circulation.

An alpha-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes.

J. Seidman, S. Vatner, C. Seidman, 1999, The American journal of physiology.

Autophagy Guided Interventions to Modify the Cardiac Phenotype of Danon Disease.

J. Seidman, C. Seidman, N. Abraham, 2022, Biochemical pharmacology.

Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere

S. Gygi, J. Seidman, J. Paulo, 2022, Circulation.

Effects of Mutant Gene Dosage on Phenotype

J. Seidman, E. Brown, C. Seidman, 2016 .

Expert consensus document American College of Cardiology / European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy

E. D. Wigle, Judith S. Hochman, Mark A. Hlatky, 2003 .

Genetics and disease of ventricular muscle.

J. Seidman, D. Fatkin, C. Seidman, 2014, Cold Spring Harbor perspectives in medicine.

Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy

S. Colan, J. Seidman, E. Orav, 2012, Circulation. Cardiovascular genetics.

The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

J. Seidman, R. Kucherlapati, H. Rehm, 2005, American journal of medical genetics. Part A.

Three inherited disorders of calcium sensing.

E. Brown, C. Seidman, M. Pollak, 1996, Medicine.

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Yufeng Shen, Boris Yamrom, Jeremy Leipzig, 2014, Circulation research.

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

J. Seidman, W. Crowley, C. Seidman, 1997, The Journal of clinical endocrinology and metabolism.

The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing.

J. Seidman, E. Brown, C. Seidman, 1995, The Journal of nutrition.

A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia

J. Seidman, R. Maas, C. Seidman, 2004, Human Genetics.

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

J. Seidman, H. Watkins, C. Seidman, 1992, The New England journal of medicine.

Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy.

J. Schmitt, J. Seidman, Y. Wang, 2013, Journal of molecular and cellular cardiology.

An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations.

J. Seidman, W. Mckenna, H. Watkins, 1994, Circulation.

Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.

J. Seidman, R. Lieber, C. Seidman, 2014, Human molecular genetics.

AMP-Activated Protein Kinase in the Heart: Role During Health and Disease

J. Seidman, C. Seidman, M. Arad, 2007, Circulation research.

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

J. Seidman, C. Seidman, N. Karimbux, 1996, Nature Genetics.

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36

J. Seidman, C. Tabin, C. Seidman, 1994, Nature Genetics.

A nonsense mutation in MSX1 causes Witkop syndrome.

J. Seidman, U. Felbor, R. Maas, 2001, American journal of human genetics.

Haploinsufficiency of MSX1: a Mechanism for Selective Tooth Agenesis

J. Seidman, C. Seidman, Hailan Zhang, 1998, Molecular and Cellular Biology.

Brazilian urban population genetic structure reveals a high degree of admixture

J. Seidman, J. Krieger, A. Pereira, 2011, European Journal of Human Genetics.

Fulminant Myocarditis with Combination Immune Checkpoint Blockade.

J. Seidman, J. Taube, D. Roden, 2016, The New England journal of medicine.

Calcium-ion-sensing cell-surface receptors.

J. Seidman, E. Brown, C. Seidman, 1995, The New England journal of medicine.

Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

J. Seidman, E. Brown, C. Seidman, 1993, Cell.

Rescue of cardiomyocyte dysfunction by phospholamban ablation does not prevent ventricular failure in genetic hypertrophy.

Andrew N. Carr, J. Seidman, G. Dorn, 2003, The Journal of clinical investigation.

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

J. Seidman, C. Seidman, M. Pollak, 1993, Nature genetics.

ORE identifies extreme expression effects enriched for rare variants

F. Richter, G. E. Hoffman, K. B. Manheimer, 2019, Bioinform..

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.

M. Lovett, C. Seidman, N. Lindor, 2002, Human molecular genetics.

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.

J. Seidman, C. Seidman, N. Lindor, 2000, American journal of human genetics.

The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.

J. Seidman, R. Eavey, C. Seidman, 1998, American journal of human genetics.

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

J. Hughes, J. Seidman, C. Seidman, 1994, Nature Genetics.

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

J. Seidman, B. Bruneau, M. Bamshad, 1997, Nature Genetics.

Macrophages Facilitate Electrical Conduction in the Heart

Andrej J. Savol, P. Libby, J. Seidman, 2017, Cell.

A TBX5 dosage-sensitive gene regulatory network for human congenital heart disease

Joshua M. Stuart, J. Seidman, B. Bruneau, 2019, bioRxiv.

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes

Michael A. Burke, J. Seidman, B. Maron, 2017, Circulation. Cardiovascular genetics.

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.

Stuart A. Cook, Jonathan G. Seidman, Christine E. Seidman, 2016, Journal of the American College of Cardiology.

Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation

J. Seidman, E. Brown, C. Seidman, 1994, Nature Genetics.

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

H. Hakonarson, K. Strauch, J. Seidman, 2017, PloS one.

Titin truncating variants affect heart function in disease cohorts and the general population

Daniel Rueckert, Carlo Biffi, Antonio de Marvao, 2016, Nature Genetics.

A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

J. Seidman, C. Seidman, W. McKenna, 1990, Cell.

IL-11 is a crucial determinant of cardiovascular fibrosis

S. V. Heesch, J. Seidman, E. Petretto, 2017, Nature.

Structural variation across 138,134 samples in the TOPMed consortium

Mark J. P. Chaisson, Nicholette D. Palmer, M. Fornage, 2023, bioRxiv.

Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics

Kyle J. Gaulton, David S. Fischer, Malte D. Luecken, 2021, Nature Medicine.

A One-Page Summary Report of Genome Sequencing for the Healthy Adult

Robert C. Green, Isaac S. Kohane, Heidi L. Rehm, 2015, Public Health Genomics.

Identification of genetic loci associated with paralysis, inflammation and weight loss in mouse experimental autoimmune encephalomyelitis.

J. Seidman, H. Weiner, V. Kuchroo, 2001, International immunology.

Cardiomyocyte-enriched protein CIP protects against pathophysiological stresses and regulates cardiac homeostasis.

J. Seidman, Da-Zhi Wang, W. Pu, 2015, The Journal of clinical investigation.

Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis

Gregory M. Fomovsky, Richard T. Lee, J. Seidman, 2015, Proceedings of the National Academy of Sciences.

Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy

Christine E. Seidman, J. Seidman, C. Seidman, 2013, Science.

QTL influencing autoimmune diabetes and encephalomyelitis map to a 0.15-cM region containing Il2

J. Seidman, H. Weiner, V. Kuchroo, 1999, Nature Genetics.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

CRISPR/Cas9‐Mediated Fluorescent Tagging of Endogenous Proteins in Human Pluripotent Stem Cells

Radhika Agarwal, Christine E Seidman, C. Seidman, 2018, Current protocols in human genetics.

M. Daly, Alex Bloemendal, J. Seidman, 2017, bioRxiv.

α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere

Christine E. Seidman, Calum MacRae, Ludwig Thierfelder, 1994, Cell.

The Genomic Architecture of Sporadic Heart Failure

H. Watkins, C. Seidman, 2011 .

Genomic frontiers in congenital heart disease

J. Seidman, C. Seidman, S. Morton, 2021, Nature Reviews Cardiology.

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Kathleen M. Chen, K. B. Manheimer, G. Marth, 2020, Nature Genetics.

Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants.

J. Seidman, C. Seidman, S. Hitchcock-DeGregori, 1999, Biochemistry.

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.

Birgit Funke, Christine E Seidman, S. Colan, 2010, Journal of the American College of Cardiology.

Biobank participants' preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project.

Elizabeth W Karlson, Bing Lu, Lisa Soleymani Lehmann, 2014, Mayo Clinic proceedings.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Angeliki Pantazi, Nikolaos A Patsopoulos, Ignaty Leshchiner, 2018, npj Genomic Medicine.

Cells and gene expression programs in the adult human heart

Matthias Heinig, Daniel Reichart, Sarah A. Teichmann, 2020, bioRxiv.

Contribution of rare transmitted and de novo variants among 2 , 871 1 congenital heart disease probands

Deepak, Stephan J Sanders, W. Chung, 2017 .

Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis

J. Seidman, B. Bruneau, A. Tarakhovsky, 2011, Nature Genetics.

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease

Michael F Swartz, K. B. Manheimer, W. Chung, 2020, Circulation. Genomic and precision medicine.

Spatiotemporal Multi-Omics Mapping Generates a Molecular Atlas of the Aortic Valve and Reveals Networks Driving Disease

Joshua D. Hutcheson, J. Seidman, Amitabh Sharma, 2018, Circulation.

Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease.

Joshua M. Stuart, J. Seidman, B. Bruneau, 2019, Developmental cell.

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

J. Seidman, R. Kucherlapati, C. Seidman, 1997, Nature genetics.

Tbx5 is required for forelimb bud formation and continued outgrowth

J. Seidman, C. Tabin, B. Bruneau, 2003, Development.

Mutations in the cardiac myosin binding protein–C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

J. Seidman, B. Maron, H. Watkins, 1995, Nature Genetics.

Cardiac myosin binding protein-C is essential for thick-filament stability and flexural rigidity.

J. Seidman, C. Seidman, J. Vigoreaux, 2009, Biophysical journal.

The Genetic Basis for Cardiomyopathy from Mutation Identification to Mechanistic Paradigms

J. Seidman, C. Seidman, Christine Seidman, 2001, Cell.

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

J. Seidman, D. Fatkin, M. Cowley, 2018, Genetics in Medicine.

Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy

J. Seidman, D. Fatkin, M. Cowley, 2018, Genetics in Medicine.

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

J. Seidman, H. Rehm, R. Kucherlapati, 2009, Nature Methods.

Isolation of Nuclei from Mammalian Cells and Tissues for Single‐Nucleus Molecular Profiling

J. Seidman, N. Hübner, C. Seidman, 2021, Current protocols.

5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.

J. Seidman, M. Bulyk, P. D. De Jager, 2014, The Journal of clinical investigation.

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

J. Seidman, R. Kucherlapati, B. Neel, 2010, The Journal of clinical investigation.

Genetic Cardiomyopathies

D. Fatkin, C. Seidman, Carolyn Y. Ho, 2020, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Familial dilated cardiomyopathy locus maps to chromosome 2q31.

J A Osborne, H Niimura, S. Solomon, 1999, Circulation.

Direct Reprogramming of Non-limb Fibroblasts to Cells with Properties of Limb Progenitors

J. Seidman, C. Tabin, O. Pourquié, 2021, bioRxiv.

Transcription factor haploinsufficiency: when half a loaf is not enough.

J. Seidman, C. Seidman, J G Seidman, 2002, The Journal of clinical investigation.

A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13.

J. Seidman, C. Seidman, M. Haas, 1998, Kidney international.

Complement genes contribute sex-biased vulnerability in diverse illnesses

Simon C. Potter, Christopher W. Whelan, M. Pirinen, 2020, Nature.

Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses

Christopher W. Whelan, R. Handsaker, R. Ophoff, 2019, bioRxiv.

Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC)

G. Filippatos, S. Heymans, R. D. de Boer, 2021, European journal of heart failure.

Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy

Parth N. Patel, J. Seidman, S. Cook, 2021, Circulation. Genomic and precision medicine.

Discordant clinical features of identical hypertrophic cardiomyopathy twins

J. Seidman, A. Pereira, C. Seidman, 2021, Proceedings of the National Academy of Sciences.

Discovery and analyses of pathogenic variants in explanted hearts from primary cardiomyopathy patients

J. Seidman, C. Seidman, J. Gorham, 2020 .

Precision Medicine in the Management of Dilated Cardiomyopathy: JACC State-of-the-Art Review.

J. Seidman, D. Fatkin, C. Seidman, 2019, Journal of the American College of Cardiology.

Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy

Parth N. Patel, J. Seidman, D. O’Regan, 2019, Circulation.

Genetic Testing and Counseling for Hypertrophic Cardiomyopathy.

C. Seidman, Carolyn Y. Ho, Allison L. Cirino, 2019, Cardiology clinics.

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

Christine E Seidman, Sakthivel Sadayappan, J. Seidman, 2019, Science Translational Medicine.

Abstract 571: MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy by Dysregulating Myosin: Implications for Therapy

J. Seidman, H. Watkins, C. Seidman, 2018, Circulation Research.

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Jacob T. Munro, Angharad M Roberts, J. Seidman, 2018, Genetics in Medicine.

Closing the Genotype-Phenotype Loop for Precision Medicine

C. Seidman, C. Macrae, 2017, Circulation.

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

Matthew S. Lebo, R. Green, H. Rehm, 2017, Circulation. Cardiovascular genetics.

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

J. Seidman, J. Ware, C. Seidman, 2017, eLife.

3 Cirino at al Comparing Panel and Whole Genome Sequencing in HCM Results Patient Characteristics

Matthew S. Lebo, R. Green, H. Rehm, 2017 .

The genetic basis for cardiac remodeling.

Christine E Seidman, Ferhaan Ahmad, J. Seidman, 2005, Annual review of genomics and human genetics.

Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action.

J. Seidman, H. Watkins, C. Seidman, 1996, The Journal of clinical investigation.

Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene.

J. Seidman, B. Maron, H. Watkins, 1997, Journal of the American College of Cardiology.

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

Christine E. Seidman, James A. Spudich, Robert S. McDowell, 2016, Science.

Dissection of Chromosome 18 Blood Pressure and Salt-Sensitivity Quantitative Trait Loci in the Spontaneously Hypertensive Rat

Nathan R. Qi, J. Seidman, T. Kurtz, 2009, Hypertension.

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

W. Chung, J. Seidman, D. Srivastava, 2020, eLife.

A novel custom resequencing array for dilated cardiomyopathy

J. Seidman, H. Rehm, C. Seidman, 2010, Genetics in Medicine.

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.

Roger R Markwald, Christine E Seidman, J. Schmitt, 2010, The Journal of clinical investigation.

Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.

J. Seidman, C. Seidman, M. Tyska, 2000, Circulation research.

A Mouse Model of Familial Hypertrophic Cardiomyopathy

Frederick J. Schoen, Christine E. Seidman, David A. Conner, 1996, Science.

Preparation of rAAV9 to Overexpress or Knockdown Genes in Mouse Hearts.

J. Seidman, Da-Zhi Wang, W. Pu, 2016, Journal of visualized experiments : JoVE.

Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog.

N. Copeland, D. Gilbert, N. Jenkins, 1995, Genomics.

Nationwide Study on Hypertrophic Cardiomyopathy in Iceland: Evidence of a MYBPC3 Founder Mutation

Michael A. Burke, D. Gudbjartsson, K. Stefánsson, 2014, Circulation.

Genetic causes of human heart failure.

Jonathan Seidman, Hiroyuki Morita, Christine E Seidman, 2005, The Journal of clinical investigation.

Direct Cardiomyocyte Reprogramming : A New Direction for Subject Collection The Biology of Heart Disease Genetics and Disease of Ventricular Muscle

C. Mummery, D. Fatkin, C. Seidman, 2013 .

Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history.

J. Seidman, C. Seidman, 2011, Circulation research.

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

J. Seidman, J. Saul, B. Maron, 2005, The New England journal of medicine.

Phenotypic diversity in hypertrophic cardiomyopathy.

Christine E Seidman, J. Seidman, C. Seidman, 2002, Human molecular genetics.

Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis.

Kazuko Koshiba-Takeuchi, R Mark Henkelman, Christine E Seidman, 2006, Developmental biology.

Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.

B. Byrne, S. Houser, S. Ommen, 2010, Circulation.

Special Report Research Priorities in Hypertrophic Cardiomyopathy Report of a Working Group of the National Heart, Lung, and Blood Institute Genetic Cause

B. Byrne, S. Houser, S. Ommen, 2010 .

Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

J. Seidman, C. Seidman, D. Maclennan, 2009, Proceedings of the National Academy of Sciences.

An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line

J. Seidman, A. Gramolini, C. Seidman, 2007, Proceedings of the National Academy of Sciences.

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

M. Waldenberger, H. Hakonarson, K. Strauch, 2020, bioRxiv.

Transcription factor protein interactomes reveal genetic determinants in heart disease

Mauro W. Costa, K. Pollard, N. Krogan, 2022, Cell.

Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy

J. Seidman, C. Seidman, M. Bogoyevitch, 2008, Circulation.

Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly

J. Seidman, B. Maron, C. Seidman, 2002, Circulation.

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1

S. Leal, J. Seidman, J. Belmont, 2011, Nature Genetics.

Deficient Cation Channel Regulation in Neurons From Mice With Targeted Disruption of the Extracellular Ca2+-Sensing Receptor Gene

J. Seidman, E. Brown, C. Seidman, 1997, Brain Research Bulletin.

HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

J. Seidman, R. Eavey, Kerry K. Brown, 2013, Human mutation.

Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.

A. Zwinderman, J. Seidman, L. Tabak, 2011, Cell metabolism.

Divergent pathways mediate the induction of ANF transgenes in neonatal and hypertrophic ventricular myocardium.

C. Seidman, K. Chien, H. Rockman, 1995, The Journal of clinical investigation.

Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects.

J. Seidman, D. Fatkin, C. Seidman, 1998, Circulation.

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

J. Seidman, E. Brown, C. Seidman, 1992, Nature Genetics.

Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

J. Seidman, R. Eavey, H. Watkins, 1999, The American journal of otology.

Robust identification of mosaic variants in congenital heart disease

K. B. Manheimer, W. Chung, J. Seidman, 2018, Human Genetics.

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

S. Solomon, J. Seidman, A. Poznanski, 1994, The New England journal of medicine.

Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.

J. Seidman, E. Arbustini, D. Freimark, 2014, The Israel Medical Association journal : IMAJ.

Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

H Niimura, J. Seidman, B. Maron, 2001, Journal of the American College of Cardiology.

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease.

Ferhaan Ahmad, J. Seidman, G. Fishman, 2008, Journal of molecular and cellular cardiology.

Cardiac Septation A Late Contribution of the Embryonic Primary Myocardium to Heart Morphogenesis

C. Seidman, 2002 .

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.

J. Seidman, C. Seidman, V. Buckalew, 1998, Kidney international.

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

Craig C. Benson, W. Chung, J. Seidman, 2021, Circulation research.

Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35

J. Seidman, S. Merchant, C. Seidman, 2009, The Annals of otology, rhinology, and laryngology.

Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

J. Seidman, B. Maron, D. Fatkin, 1999, The American journal of cardiology.

Cloning and functional characterization of extracellular Ca(2+)-sensing receptors from parathyroid and kidney.

J. Seidman, E. Brown, C. Seidman, 1995, Bone.

Activin type II receptor signaling in cardiac aging and heart failure

Vassilios J. Bezzerides, N. Houstis, J. Seidman, 2019, Science Translational Medicine.

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

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

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model.

J. Schmitt, D. Kass, J. Seidman, 2002, The Journal of clinical investigation.

Variation in the 4q25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Artery Bypass Graft Surgery

J. Seidman, P. Ellinor, S. Aranki, 2009, Circulation. Cardiovascular genetics.

Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.

J. Seidman, H. Watkins, C. Seidman, 1991, The New England journal of medicine.

β-Arrestin1 Knockout Mice Appear Normal but Demonstrate Altered Cardiac Responses to β-Adrenergic Stimulation

J. Seidman, S. Vatner, C. Seidman, 1997 .

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.

Hereditary inclusion body myopathy maps to chromosome 9p1-q1.

J. Seidman, C. Seidman, S. Mitrani‐Rosenbaum, 1996, Human molecular genetics.

Transgenic Mice Overexpressing Mutant PRKAG2 Define the Cause of Wolff-Parkinson-White Syndrome in Glycogen Storage Cardiomyopathy

Ferhaan Ahmad, J. Schmitt, J. Seidman, 2003, Circulation.

The Muscle-Bound Heart.

J. Seidman, C. Seidman, A. Fahed, 2016, Cardiac electrophysiology clinics.

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

Practice Guidelines Consensus Documents and the European Society of Cardiology Committee for

B. Maron, C. Seidman, W. McKenna, 2007 .

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice G

Barry J Maron, Folkert J Ten Cate, Christine E Seidman, 2003, Journal of the American College of Cardiology.

American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice G

C. Tracy, S. Priori, S. Kaul, 2003, European heart journal.

Genetics and Heart Failure: Hypertrophic Cardiomyopathy

C. Seidman, Carolyn Y. Ho, 2006 .

Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene.

F J Schoen, J. Seidman, D. Turnbull, 1999, The Journal of clinical investigation.

Force Generation via β-Cardiac Myosin, Titin, and α-Actinin Drives Cardiac Sarcomere Assembly from Cell-Matrix Adhesions.

Anant Chopra, William J Polacheck, Matthew L. Kutys, 2018, Developmental cell.

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

George Church, Wolfgang A. Linke, Stuart A. Cook, 2015, Science.

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy.

J. Seidman, H. Watkins, C. Seidman, 1995, Human molecular genetics.

Loss of RNA expression and allele-specific expression associated with congenital heart disease

Yufeng Shen, Andrew J Sharp, Nihir Patel, 2016, Nature Communications.

SarcTrack

Jyoti Rao, Arun Sharma, Marcelo Cicconet, 2019, Circulation research.

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

J. Seidman, M. Bamshad, L. Jorde, 1999, American journal of human genetics.

Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

J. Hughes, J. Seidman, C. Seidman, 1997, American journal of human genetics.

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.

J. Seidman, W. Mckenna, H. Watkins, 1992, The Journal of clinical investigation.

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.

Aberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage.

J. Seidman, J. Balschi, C. Seidman, 2007, The Journal of clinical investigation.

Identifying Candidate Genes

J. Seidman, C. Seidman, 2012 .

Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches

Yufeng Shen, Nihir Patel, Felix Richter, 2020, bioRxiv.

Gene Mutations in Apical Hypertrophic Cardiomyopathy

J. Seidman, B. Maron, C. Seidman, 2005, Circulation.

Homozygous Mutation in Cardiac Troponin T: Implications for Hypertrophic Cardiomyopathy

J. Seidman, C. Seidman, C. Farver, 2000, Circulation.

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Stefan Johansson, Jason Flannick, Christopher J O'Donnell, 2013, Nature Genetics.

Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression.

E. Antman, S. Colan, R. Kwong, 2015, JACC. Heart failure.

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 .

A Contemporary Approach to Hypertrophic Cardiomyopathy

Christine E Seidman, C. Seidman, Carolyn Y. Ho, 2006, Circulation.

IEWPOINT roposal for Contemporary Screening Strategies n Families With Hypertrophic Cardiomyopathy

J. Seidman, C. Seidman, J. Maron, 2004 .

Assessment of Diastolic Function With Doppler Tissue Imaging to Predict Genotype in Preclinical Hypertrophic Cardiomyopathy

S. Solomon, J. Seidman, B. Maron, 2002, Circulation.

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

J. Seidman, W. Mckenna, H. Watkins, 1993, American journal of human genetics.

A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3

J. Seidman, H. Watkins, C. Seidman, 1993, Nature Genetics.

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.

S. Solomon, J. Seidman, C. Seidman, 1990, The Journal of clinical investigation.

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.

S. Solomon, J. Seidman, R. Holcombe, 1989, The New England journal of medicine.

Molecular profiling of dilated cardiomyopathy that progresses to heart failure.

Michael A. Burke, J. Seidman, C. Seidman, 2016, JCI insight.

Alpha blockade potentiates CPVT therapy in calsequestrin-mutant mice.

J. Seidman, C. Seidman, M. Eldar, 2013, Heart rhythm.

Preface

J. Haines, J. Seidman, Douglas R. Smith, 2011 .

Sarcomere Gene Mutations in Hypertrophy and Heart Failure

J. Seidman, C. Seidman, R. Nagai, 2010, Journal of cardiovascular translational research.

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

J. Seidman, R. Eavey, C. Seidman, 2007, The New England journal of medicine.

Sex differences in gene expression in response to ischemia in the human myocardium

J. Seidman, B. Stranger, S. Aranki, 2018, bioRxiv.

Exclusion of Atypical Vitelliform Macular Dystrophy from 8 q 24 . 3 and from Other Known Macular Degenerative Loci

J. Seidman, L. Donoso, C. Seidman, 2006 .

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

Jourdan K. Ewoldt, S. Gygi, J. Seidman, 2021, Circulation research.

Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome.

J. Seidman, C. Seidman, C. Berul, 2003, Journal of the American College of Cardiology.

Cardiomyocyte infection by Trypanosoma cruzi promotes innate immune response and glycolysis activation

J. Seidman, J. Krieger, C. Seidman, 2023, Frontiers in Cellular and Infection Microbiology.

Reversibility of PRKAG2 Glycogen-Storage Cardiomyopathy and Electrophysiological Manifestations

Ferhaan Ahmad, J. Seidman, C. Seidman, 2008, Circulation.

mTOR signaling inhibition decreases lysosome migration and impairs the success of Trypanosoma cruzi infection and replication in cardiomyocytes.

J. Seidman, J. Krieger, C. Seidman, 2023, Acta tropica.

Genome-Wide Assessment for Genetic Variants Associated with Ventricular Dysfunction after Primary Coronary Artery Bypass Graft Surgery

Dan M. Roden, Christine E. Seidman, Kuang-Yu Liu, 2011, PloS one.

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

W. Chung, J. Seidman, Yufeng Shen, 2020, JAMA cardiology.

Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy

J. Seidman, D. Judge, S. Goland, 2021, Circulation.

Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter

V. Mootha, J. Seidman, C. Seidman, 2017, Proceedings of the National Academy of Sciences.

Altered crossbridge kinetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy.

J. Seidman, C. Seidman, D. Maughan, 1999, Circulation research.

Altered Crossbridge Kinetics in the a MHC 403 / 1 Mouse Model of Familial Hypertrophic Cardiomyopathy

J. Seidman, C. Seidman, D. Maughan, 1999 .

Comparison of Two Murine Models of Familial Hypertrophic Cardiomyopathy

F J Schoen, James O. Mudd, D. Kass, 2001, Circulation research.

Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy.

J. Seidman, C. Seidman, 1991, Molecular biology & medicine.

Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy

D. Bluemke, V. Ferreira, P. Elliott, 2014, Circulation. Cardiovascular imaging.

Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy.

E. Ashley, S. Colan, A. Pereira, 2019, JAMA cardiology.

Racial Differences in the use of Genetic Testing among Patients with Hypertrophic Cardiomyopathy

C. Seidman, Carolyn Y. Ho, N. Lakdawala, 2019, Journal of Cardiac Failure.

Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants

S. Gabriel, D. Altshuler, J. Hirschhorn, 2014, Circulation research.

Genetics of cancer therapy-associated cardiotoxicity.

J. Seidman, C. Seidman, Yuri Kim, 2022, Journal of molecular and cellular cardiology.

Ouabain induces secretion of proatrial natriuretic factor by rat atrial cardiocytes.

J. Seidman, C. Seidman, K. Bloch, 1988, American Journal of Physiology.

Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization

Jourdan K. Ewoldt, J. Seidman, C. Seidman, 2021, Science advances.

Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.

Michael A. Burke, J. Seidman, R. Gerszten, 2017, Cell Reports.

Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.

Michael A. Burke, J. Seidman, R. Gerszten, 2016, Cell reports.

Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.

S. Colan, J. Seidman, R. Kwong, 2010, The New England journal of medicine.

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

J. Seidman, T. Schwarzmayr, C. Seidman, 2021, iScience.

Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia.

Christopher Semsarian, Christine E Seidman, J. Seidman, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Effects of losartan on left ventricular hypertrophy and fibrosis in patients with nonobstructive hypertrophic cardiomyopathy.

S. Abbara, C. Seidman, Y. Shimada, 2013, JACC. Heart failure.

The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2).

J. Seidman, C. Seidman, M. Eldar, 2013, Biochemical pharmacology.

Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice.

J. Seidman, C. Seidman, M. Eldar, 2010, Heart rhythm.

Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.

J. Seidman, C. Seidman, C. Berul, 2007, The Journal of clinical investigation.

Conundrum of sudden cardiac death: making sense of missense.

S. Markowitz, G. Thomas, CHRISTOPHER F. Liu, 2013, Circulation. Arrhythmia and electrophysiology.

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

J. Schmitt, D. Kass, J. Seidman, 2002 .

Narrative Review: Harnessing Molecular Genetics for the Diagnosis and Management of Hypertrophic Cardiomyopathy

J. Seidman, C. Seidman, Libin Wang, 2010, Annals of Internal Medicine.

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

Barry J Maron, Christine E Seidman, J. Seidman, 2006, Circulation.

Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals

Anne L. Taylor, J. Seidman, C. Yancy, 2018, JAMA cardiology.

Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells

Gang Wang, George Church, Jonathan Seidman, 2014, Nature Communications.

DNA Break-Induced Epigenetic Drift as a Cause of Mammalian Aging

J. Seidman, S. Bonasera, K. Tsubota, 2019, bioRxiv.

Genetics of cardiovascular disease.

D. Milewicz, C. Seidman, C E Seidman, 2000, Circulation.

Complement genes contribute sex-biased vulnerability in diverse disorders

Christopher W. Whelan, M. Pirinen, C. Spencer, 2020, Nature.

A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1–1q1

A. Kong, J. Seidman, M. Fishman, 1994, Nature Genetics.

N488I Mutation of the γ2-Subunit Results in Bidirectional Changes in AMP-Activated Protein Kinase Activity

J. Seidman, C. Seidman, J. Ingwall, 2005 .

Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy.

J. Seidman, C. Seidman, J. Ingwall, 1998, The Journal of clinical investigation.

proteins during development of heart failure Exercise training normalizes altered calcium-handling

J. Seidman, C. Seidman, M. Eldar, 2015 .

The imperative to invest in science has never been greater.

L. Fried, S. Lemon, C. Sawyers, 2014, The Journal of clinical investigation.

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

J. Seidman, S. Cook, J. Ware, 2016, The New England journal of medicine.

Joint analysis of left ventricular expression and circulating plasma levels of Omentin after myocardial ischemia

J. Seidman, S. Aranki, S. Body, 2017, Cardiovascular Diabetology.

A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy

J. Seidman, S. Houser, M. Regnier, 2016, Cell.

Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function

Ferhaan Ahmad, J. Schmitt, J. Seidman, 2006, Proceedings of the National Academy of Sciences.

Management of hypertrophic cardiomyopathy.

W. Mckenna, B. Maron, C. Seidman, 1993 .

Human Induced Pluripotent Stem Cell Production and Expansion from Blood using a Non‐Integrating Viral Reprogramming Vector

C. Seidman, M. Mücke, Arun K. Sharma, 2018, Current protocols in molecular biology.

Robust identification of mosaic variants in congenital heart disease

K. B. Manheimer, J. Seidman, Yufeng Shen, 2018, Human Genetics.

Tbx5 maintains atrial identity by regulating an atrial enhancer network

J. Seidman, W. Pu, C. Seidman, 2023, bioRxiv.

A classic twin study of external ear malformations, including microtia.

J. Seidman, R. Eavey, C. Seidman, 2009, The New England journal of medicine.

Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies.

Raquel Yotti, Christine E Seidman, J. Seidman, 2019, Annual review of genomics and human genetics.

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation: A Common Cause of Hypertrophic Cardiomyopathy

W. Chung, J. Seidman, H. Rehm, 2010, Circulation research.

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.

beta-Arrestin1 knockout mice appear normal but demonstrate altered cardiac responses to beta-adrenergic stimulation.

J. Seidman, S. Vatner, C. Seidman, 1997, Circulation research.

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease.

J. Seidman, C. Seidman, S. Izumo, 2000, The Journal of clinical investigation.

Differentiation and Contractile Analysis of GFP‐Sarcomere Reporter hiPSC‐Cardiomyocytes

Christine E Seidman, C. Seidman, Arun Sharma, 2018, Current protocols in human genetics.

An α-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes.

Guiping Yang, Christine E Seidman, J. Seidman, 1999, American journal of physiology. Heart and circulatory physiology.

N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity.

J. Seidman, C. Seidman, J. Ingwall, 2005, Circulation research.

Deletion of thioredoxin-interacting protein in mice impairs mitochondrial function but protects the myocardium from ischemia-reperfusion injury.

Richard T. Lee, J. Seidman, M. Lindsey, 2012, The Journal of clinical investigation.

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.

J. Seidman, C. Seidman, J. Gorham, 2015, Journal of molecular and cellular cardiology.

Deep Sequence Analysis of Gene Expression Identifies Osteopontin as a Downstream Effector of Integrin-Linked Kinase (ILK) in Cardiac-Specific ILK Knockout Mice

J. Seidman, R. Gerszten, S. Dedhar, 2013, Circulation. Heart failure.

Dynamic Cellular Integration Drives Functional Assembly of the Heart’s Pacemaker Complex

Christine E. Seidman, Trevor Henley, Michael Bressan, 2018, Cell reports.

CalTrack

J. Seidman, H. Watkins, A. Sparrow, 2021, Circulation research.

Mechanism based therapies enable personalised treatment of hypertrophic cardiomyopathy

J. Seidman, C. Seidman, B. Rodríguez, 2022, Scientific Reports.

Amyloid‐β proteins activate Ca2+‐permeable channels through calcium‐sensing receptors

J. Seidman, E. Brown, C. Seidman, 1997 .

Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor

J. Seidman, W. Pu, C. Seidman, 2018, Nature Communications.

Multi-Omics Profiling of Hypertrophic Cardiomyopathy Reveals Altered Mechanisms in Mitochondrial Dynamics and Excitation–Contraction Coupling

A. Emili, J. Seidman, C. Seidman, 2023, International journal of molecular sciences.

Sex differences in gene expression in response to ischemia in the human left ventricular myocardium.

J. Seidman, B. Stranger, S. Aranki, 2019, Human molecular genetics.

Photoaffinity labeling of the alpha 1-adrenergic receptor using an 125I-labeled aryl azide analogue of prazosin.

C. Seidman, R. Graham, C. Homcy, 1984, Biochemistry.

Molecular genetic studies of familial hypertrophic cardiomyopathy

C. E. Seidman, J. Seidman, C. Seidman, 1998, Basic Research in Cardiology.

A dinucleotide repeat polymorphism in the MYBPH gene.

J. Seidman, C. Seidman, C. Macrae, 1994, Human Molecular Genetics.

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Nicolas F. Fernandez, W. Chung, D. Srivastava, 2020, JACC. Basic to translational science.

Genetic Causes of Atrial Septal Defects

C. Seidman, K. Patton, 2000 .

Transcriptional Profiling of Cultured, Embryonic Epicardial Cells Identifies Novel Genes and Signaling Pathways Regulated by TGFβR3 In Vitro

J. Seidman, C. Seidman, Danos C. Christodoulou, 2016, PloS one.

Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

J B Patlak, J. Schmitt, J. Seidman, 2007, American journal of physiology. Heart and circulatory physiology.

Inherited Causes of Cardiovascular Disease

J. Seidman, C. Seidman, R. Pyeritz, 2012 .

SarcTrack

J. Seidman, O. Pourquié, Marcelo Cicconet, 2019, Circulation research.

Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium.

Yuan Wang, Christine E Seidman, J. Schmitt, 2004, American journal of physiology. Heart and circulatory physiology.

Ventricular Arrhythmia Vulnerability in Cardiomyopathic Mice With Homozygous Mutant Myosin-Binding Protein C Gene

J. Seidman, C. Seidman, C. Berul, 2001, Circulation.

Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy.

J. Seidman, C. Seidman, E. Marbán, 1999, The Journal of clinical investigation.

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.

Mutations in human TBX3 alter limb, apocrine, and genital development in ulnar-mammary syndrome

J. Seidman, B. Bruneau, M. Bamshad, 1998, Nature Genetics.

Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community: The Framingham Heart Study

D. Levy, J. Hirschhorn, J. Seidman, 2006, Circulation.

Molecular epidemiology of hypertrophic cardiomyopathy.

J. Seidman, B. Maron, C. Seidman, 2002, Cold Spring Harbor symposia on quantitative biology.

Spatial transcriptional profile of the chick and mouse endocardial cushions identify novel regulators of endocardial EMT in vitro.

J. Seidman, C. Seidman, Danos C. Christodoulou, 2013, Journal of molecular and cellular cardiology.

Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study

V. Jobanputra, Yufeng Shen, J. Newburger, 2023, Circulation. Genomic and precision medicine.

De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects

Stephan J Sanders, M. Daly, W. Chung, 2016 .

as a genetic modifier in cardiomyopathy

M. Bulyk, A. Aboukhalil, C. Seidman, 2014 .

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Michael A. Burke, N. Brown, P. Lockhart, 2020, American heart journal.

Structure and Expression of the Atrial Natriuretic Factor Gene

J. Seidman, C. Seidman, K. Bloch, 1987 .

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Gabor T. Marth, Kathleen M. Chen, K. B. Manheimer, 2020, Nature Genetics.

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.

J. Seidman, S. Merchant, J. Nadol, 1996, Human molecular genetics.

Probing the subcellular nanostructure of engineered human cardiomyocytes in 3D tissue

Jourdan K. Ewoldt, J. Seidman, Christopher S. Chen, 2021, Microsystems & nanoengineering.

Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity

W. Chung, J. Seidman, Yufeng Shen, 2022, Circulation. Genomic and precision medicine.

Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

Michael A. Burke, K. Sliwa, P. Schwartz, 2016, Scientific Reports.

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

Michael A. Burke, K. Sliwa, P. Schwartz, 2016, Scientific Reports.

Molecular medicine in the 21st century

C. Seidman, C. Semsarian, 2001, Internal medicine journal.

Cao-sensing receptor (CaR)-mediated activation of K+ channels is blunted in CaR gene-deficient mouse neurons.

J. Seidman, E. Brown, C. Seidman, 1997, Neuroreport.

An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels

Ivana V. Yang, Andrew D. Johnson, Ryan D. Hernandez, 2018, Circulation.

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Jacob T. Munro, J. Seidman, S. Cook, 2018, Genetics in Medicine.

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease

A. Dale, A. Panigrahy, D. Hagler, 2023, JAMA network open.

ABSENCE OF MAJOR DELETIONS OR REARRANGEMENTS OF CARDIAC MYOSIN HEAVY-CHAIN GENES IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

J. Seidman, C. Morton, H. Watkins, 1993 .

fibrillationin animals susceptible to ventricular submaximal onset and heart rate recovery responses to Effect of endurance exercise training on heart rate

J. Seidman, G. Billman, C. Seidman, 2015 .

Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1

J. Seidman, J. Cook, F. Conlon, 2023, Circulation research.

Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease

Parth N. Patel, J. Seidman, Yufeng Shen, 2023, Circulation. Genomic and precision medicine.

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

K. B. Manheimer, W. Chung, J. Seidman, 2020, Genome Medicine.

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

J. Seidman, H. Watkins, C. Seidman, 1995, The New England journal of medicine.

A public resource facilitating clinical use of genomes

Shawn M. Douglas, Jason R. Bobe, W. Chung, 2012, Proceedings of the National Academy of Sciences.

INAUGURAL ARTICLE by a Recently Elected Academy Member:A public resource facilitating clinical use of genomes

Shawn M. Douglas, Jason R. Bobe, W. Chung, 2012 .

Luteinizing Hormone-Releasing Hormone and Postmenopausal Flushing

C. Seidman, 2009 .

Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 Using Rare Variant Linkage Analysis and Long Read Genome Sequencing

P. Zhang, J. Seidman, C. Seidman, 2023, medRxiv.

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

J. Seidman, C. Seidman, C. Semsarian, 2005, Journal of Medical Genetics.

M. Daly, Alex Bloemendal, J. Seidman, 2017, Nature Communications.

Sudden death due to troponin T mutations.

H. Watkins, C. Seidman, P. Brink, 1997, Journal of the American College of Cardiology.

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.

J. Towbin, S. Ommen, R. Bonow, 2011 .

The management of hypertrophic cardiomyopathy.

W. Mckenna, B. Maron, C. Seidman, 1997, The New England journal of medicine.

Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor

J. Seidman, W. Pu, C. Seidman, 2018, Nature Communications.

Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog.

N. Copeland, D. Gilbert, C. Seidman, 1995, Genomics.

The Congenital Heart Disease Genetic Network Study: Rationale, Design, and Early Results

W. Chung, L. Sleeper, B. Gelb, 2013, Circulation research.

Genetic heterogeneity of heart-hand syndromes.

S. Solomon, J. Seidman, A. Poznanski, 1995, Circulation.

Response to Brodehl et al.

J. Seidman, D. Fatkin, M. Cowley, 2018, Genetics in Medicine.

Effect of pharmacological heart failure drugs and gene therapy on Danon's cardiomyopathy.

J. Seidman, C. Seidman, R. Kornowski, 2023, Biochemical pharmacology.

A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12.

S. Solomon, C. Morton, C. Seidman, 1990, American journal of human genetics.

Altered regulatory function of two FHC Troponin T mutants.

J. Seidman, H. Watkins, C. Seidman, 1998 .

A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.

J. Seidman, H. Watkins, C. Seidman, 1995, Circulation.

Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice

Jones, Kass, J. Seidman, 1999, The Journal of clinical investigation.

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Matthew S. Lebo, J. Seidman, H. Rehm, 2015, Genetics in Medicine.

This Review Is Part of a Thematic Series on Genetics of Cardiovascular Development, Which Includes the following Articles: Transcriptional Regulation of Vertebrate Cardiac Morphogenesis Cardiac Septation: a Late Contribution of the Embryonic Primary Myocardium to Heart Morphogenesis Early Signals in

T. Mikawa, C. Seidman, D. Bader, 2022 .

Cardiovascular Genomics

J. Seidman, M. Sabatine, C. Seidman, 2006, Circulation.

Amyloid-beta proteins activate Ca(2+)-permeable channels through calcium-sensing receptors.

J. Seidman, C. Seidman, P. Vassilev, 1997, Journal of neuroscience research.

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 .

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

J. Seidman, C. Seidman, J. Kugler, 1999, The Journal of clinical investigation.

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.

Michael A. Burke, J. Seidman, S. Cook, 2016, Journal of the American College of Cardiology.

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

J. Seidman, F. Muntoni, D. Fatkin, 1999, The New England journal of medicine.

Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex.

J. Seidman, Y. Wang, C. Seidman, 2008, American journal of physiology. Heart and circulatory physiology.

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

J. Seidman, J. Saul, W. Roberts, 2009, JAMA.

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.

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Tan Ru San, Angharad M Roberts, S. Gabriel, 2015, Science Translational Medicine.

Truncations of titin causing dilated cardiomyopathy.

L. Mestroni, J. Seidman, D. Pennell, 2012, The New England journal of medicine.

&bgr;-Myosin Heavy Chain Variant Val606Met Causes Very Mild Hypertrophic Cardiomyopathy in Mice, but Exacerbates HCM Phenotypes in Mice Carrying Other HCM Mutations

J. Seidman, M. Lohse, C. Seidman, 2014, Circulation research.

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

M. Daly, J. Rosenfeld, L. Shaffer, 2012, Proceedings of the National Academy of Sciences.

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.

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.

J. Seidman, C. Seidman, W. McKenna, 1990, The Journal of clinical investigation.

Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy

D. Bluemke, V. Ferreira, P. Elliott, 2014, Circulation. Cardiovascular imaging.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

Cardiac Remodeling in Subclinical Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial.

L. Mestroni, S. Colan, J. McMurray, 2023, JAMA cardiology.

SARS-CoV-2 Entry Genes Are Most Highly Expressed in Nasal Goblet and Ciliated Cells within Human Airways

Fabian J Theis, D. Pe’er, A. Regev, 2020, Nature Medicine.

CD36 overexpression predisposes to arrhythmias but reduces infarct size in spontaneously hypertensive rats: gene expression profile analysis.

T. Kurtz, C. Seidman, V. Zídek, 2012, Physiological genomics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy

J. Seidman, D. Fatkin, M. Cowley, 2018, Genetics in Medicine.

Exercise training improves cardiac function and attenuates arrhythmia in CPVT mice.

J. Seidman, C. Seidman, M. Eldar, 2012, Journal of applied physiology.

Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy

J. Seidman, E. Olson, C. Seidman, 2010, Proceedings of the National Academy of Sciences.

Tbx5 Is Required for Avian and Mammalian Epicardial Formation and Coronary Vasculogenesis

O. Elemento, C. Seidman, C. Basson, 2014, Circulation research.

Tbx 5 Is Required for Avian and Mammalian Epicardial Formation and Coronary Vasculogenesis

O. Elemento, C. Seidman, C. Basson, 2022 .

Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease.

Joshua M. Stuart, J. Seidman, B. Bruneau, 2020, Developmental cell.

Prevention of Ventricular Arrhythmia and Calcium Dysregulation in a Catecholaminergic Polymorphic Ventricular Tachycardia Mouse Model Carrying Calsequestrin‐2 Mutation

J. Seidman, C. Seidman, C. Berul, 2011, Cardiovascular Electrophysiology.

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation

C. Seidman, S. DePalma, B. McDonough, 2023, Circulation. Genomic and precision medicine.

DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies

Emma M. Rath, D. Fatkin, C. Seidman, 2023, Circulation. Genomic and precision medicine.

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Parth N. Patel, J. Seidman, D. Fatkin, 2017, Proceedings of the National Academy of Sciences.

Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice.

J. Seidman, C. Seidman, M. Eldar, 2010, Heart rhythm.