Christine Seidman | Academic Influence

Christine Seidman's AcademicInfluence.com Rankings

Christine Seidman

Philosophy

#3334

World Rank

#5404

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Logic

#1285

World Rank

#1996

Historical Rank

philosophy Degrees

Christine Seidman

Biology

#3848

World Rank

#5833

Historical Rank

Genetics

#339

World Rank

#398

Historical Rank

biology Degrees

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Philosophy
Biology

Christine Seidman's Degrees

Masters Medicine University of Chicago

Why Is Christine Seidman Influential?

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According to Wikipedia, Christine Edry Seidman is the Thomas W. Smith Professor of Medicine at Harvard Medical School and director of the Cardiovascular Genetics Center at Brigham and Women's Hospital. She operates a joint lab with her husband, Jonathan Seidman, where they study genetic mechanisms of heart disease. In recognition of her scientific contributions, she was elected as a fellow of the National Academy of Sciences, American Academy of Arts and Sciences, and National Academy of Medicine.

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Christine Seidman's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

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 (2006) (2840)
SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes (2020) (1723)
Fulminant Myocarditis with Combination Immune Checkpoint Blockade. (2016) (1389)
A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation (1990) (1314)
Congenital heart disease caused by mutations in the transcription factor NKX2-5. (1998) (1306)
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 (2003) (1303)
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 (2011) (1257)
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. (1999) (1239)
The Genetic Basis for Cardiomyopathy from Mutation Identification to Mechanistic Paradigms (2001) (1087)
Truncations of titin causing dilated cardiomyopathy. (2012) (1082)
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 (2011) (1054)
α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere (1994) (1049)
A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease (2001) (1032)
Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism (1993) (1003)
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome (1997) (965)
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 (2011) (904)
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. (2011) (889)
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. (1998) (762)
De novo mutations in histone modifying genes in congenital heart disease (2013) (740)
A human MSX1 homeodomain missense mutation causes selective tooth agenesis (1996) (724)
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. (1992) (713)
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (1999) (653)
Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban (2003) (603)
Mutations in the cardiac myosin binding protein–C gene on chromosome 11 cause familial hypertrophic cardiomyopathy (1995) (599)
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 (2003) (593)
Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation (1994) (582)
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. (2001) (578)
Macrophages Facilitate Electrical Conduction in the Heart (2017) (575)
Glycogen storage diseases presenting as hypertrophic cardiomyopathy. (2005) (575)
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism (1995) (566)
Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. (2010) (565)
A Mouse Model of Familial Hypertrophic Cardiomyopathy (1996) (561)
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy (2002) (553)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies (2015) (544)
Cells of the adult human heart (2020) (540)
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. (2002) (517)
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. (1989) (507)
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands (2017) (505)
Genetics of congenital heart disease: the glass half empty. (2013) (497)
Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. (1999) (482)
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome (1997) (471)
Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy (2015) (469)
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. (2002) (438)
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling (2005) (424)
A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice (2016) (413)
De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot (2009) (403)
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. (1999) (398)
Assessment of Diastolic Function With Doppler Tissue Imaging to Predict Genotype in Preclinical Hypertrophic Cardiomyopathy (2002) (392)
Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics (2007) (391)
Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β. (2010) (390)
Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly (2002) (380)
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) (1994) (374)
Shared genetic causes of cardiac hypertrophy in children and adults. (2008) (373)
IL-11 is a crucial determinant of cardiovascular fibrosis (2017) (373)
Expert consensus document American College of Cardiology / European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy (2003) (367)
Atrial natriuretic factor and related peptide hormones. (1991) (363)
AMP-Activated Protein Kinase in the Heart: Role During Health and Disease (2007) (349)
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease (2015) (341)
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. (1997) (327)
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction (1998) (323)
Transgenic Mice Overexpressing Mutant PRKAG2 Define the Cause of Wolff-Parkinson-White Syndrome in Glycogen Storage Cardiomyopathy (2003) (323)
Single-Cell Resolution of Temporal Gene Expression during Heart Development. (2016) (316)
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity (2015) (316)
The genetic basis for cardiac remodeling. (2005) (313)
Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. (2009) (307)
The Translational Landscape of the Human Heart (2019) (303)
Contemporary Definitions and Classification of the Cardiomyopathies (2006) (303)
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. (1997) (286)
Neonatal atria and ventricles secrete atrial natriuretic factor via tissue-specific secretory pathways (1986) (279)
A Molecular Pathway Including Id2, Tbx5, and Nkx2-5 Required for Cardiac Conduction System Development (2007) (277)
Genetic causes of human heart failure. (2005) (263)
A nonsense mutation in MSX1 causes Witkop syndrome. (2001) (255)
Regulation of chamber-specific gene expression in the developing heart by Irx4. (1999) (255)
Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. (1998) (252)
Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis (2011) (249)
Calcium-ion-sensing cell-surface receptors. (1995) (246)
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. (2011) (246)
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy (2018) (244)
The management of hypertrophic cardiomyopathy. (1993) (235)
Cardiac Myosin-Binding Protein-C Phosphorylation and Cardiac Function (2005) (233)
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. (2011) (233)
Localized expression of the atrial natriuretic factor gene during cardiac embryogenesis. (1987) (231)
The structure of rat preproatrial natriuretic factor as defined by a complementary DNA clone. (1984) (224)
Titin truncating variants affect heart function in disease cohorts and the general population (2016) (224)
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. (2016) (224)
Tbx5 is required for forelimb bud formation and continued outgrowth (2003) (223)
Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. (1995) (220)
Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. (2016) (220)
Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. (2001) (215)
The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system (2004) (215)
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. (1999) (212)
Polony Multiplex Analysis of Gene Expression (PMAGE) in Mouse Hypertrophic Cardiomyopathy (2007) (211)
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. (2002) (210)
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. (2000) (209)
Spectrum of somatic mitochondrial mutations in five cancers (2012) (209)
Cardiac myosin binding protein c phosphorylation is cardioprotective (2006) (209)
Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand. (2000) (207)
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss (2005) (207)
A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3 (1994) (205)
Gene Mutations in Apical Hypertrophic Cardiomyopathy (2005) (204)
Transcription factor haploinsufficiency: when half a loaf is not enough. (2002) (203)
A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1–1q1 (1994) (201)
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. (2011) (197)
A public resource facilitating clinical use of genomes (2012) (197)
Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data (2014) (197)
A molecular basis for familial hypertrophic cardiomyopathy: An α β cardiac myosin heavy chain hybrid gene (1990) (196)
Phenotypic diversity in hypertrophic cardiomyopathy. (2002) (194)
Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. (2004) (193)
Polycomb Repressive Complex 2 Regulates Normal Development of the Mouse Heart (2012) (191)
Nucleotide sequences of the human and mouse atrial natriuretic factor genes. (1984) (191)
An abnormal Ca2+ response in mutant sarcomere protein–mediated familial hypertrophic cardiomyopathy (2000) (191)
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. (2009) (188)
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. (1991) (183)
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. (2007) (182)
β-Arrestin1 Knockout Mice Appear Normal but Demonstrate Altered Cardiac Responses to β-Adrenergic Stimulation (1997) (182)
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. (2000) (180)
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. (2007) (178)
Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. (2006) (175)
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1 (2011) (175)
A common genetic variant within SCN10A modulates cardiac SCN5A expression. (2014) (174)
Erratum: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome (1997) (174)
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. (1999) (173)
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3 (1993) (173)
A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy (2016) (172)
Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. (1997) (171)
Genetics of hypertrophic cardiomyopathy (2010) (167)
Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. (2001) (164)
Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy (2013) (162)
Homozygous Mutation in Cardiac Troponin T: Implications for Hypertrophic Cardiomyopathy (2000) (160)
Cardiomyopathy in Irx4-Deficient Mice Is Preceded by Abnormal Ventricular Gene Expression (2001) (159)
Genetic testing for dilated cardiomyopathy in clinical practice. (2012) (153)
Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. (2008) (151)
T cell responses in calcineurin A alpha-deficient mice (1996) (151)
Altered hepatic transport of immunoglobulin A in mice lacking the J chain (1995) (150)
Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants (2014) (149)
Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. (2007) (147)
QTL influencing autoimmune diabetes and encephalomyelitis map to a 0.15-cM region containing Il2 (1999) (145)
Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy (2019) (145)
The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families (1992) (144)
Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression. (2015) (142)
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine (2014) (142)
The pathogenesis of familial hypertrophic cardiomyopathy: Early and evolving effects from an α-cardiac myosin heavy chain missense mutation (1999) (141)
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. (1990) (140)
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. (1992) (139)
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. (1997) (139)
Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community: The Framingham Heart Study (2006) (139)
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2 (1993) (139)
Spatiotemporal Multi-Omics Mapping Generates a Molecular Atlas of the Aortic Valve and Reveals Networks Driving Disease (2018) (138)
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. (1996) (137)
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. (2000) (135)
Genetic analysis of susceptibility to experimental autoimmune encephalomyelitis in a cross between SJL/J and B10.S mice. (1996) (133)
Familial dilated cardiomyopathy locus maps to chromosome 2q31. (1999) (132)
Deletion of thioredoxin-interacting protein in mice impairs mitochondrial function but protects the myocardium from ischemia-reperfusion injury. (2012) (132)
A Contemporary Approach to Hypertrophic Cardiomyopathy (2006) (132)
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. (1996) (129)
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes (2013) (128)
Rescue of cardiomyocyte dysfunction by phospholamban ablation does not prevent ventricular failure in genetic hypertrophy. (2003) (126)
Regulation of murine fetal-placental calcium metabolism by the calcium-sensing receptor. (1998) (124)
Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute. (2010) (123)
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 (1998) (123)
Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm (2016) (122)
An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. (2000) (122)
Contemporary Evaluation and Management of Hypertrophic Cardiomyopathy (2002) (121)
The Congenital Heart Disease Genetic Network Study: Rationale, Design, and Early Results (2013) (121)
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes (2017) (121)
Introduction of plasmid DNA into cells. (2001) (120)
Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells (2014) (120)
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development (2012) (120)
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. (2012) (120)
Atrial natriuretic factor gene expression in ventricles of rats with spontaneous biventricular hypertrophy. (1988) (119)
Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice. (1997) (117)
Amyloid‐β proteins activate Ca2+‐permeable channels through calcium‐sensing receptors (1997) (117)
Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene. (1999) (116)
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy (2020) (115)
Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy. (1995) (115)
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. (2010) (113)
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. (1997) (112)
Comparison of Two Murine Models of Familial Hypertrophic Cardiomyopathy (2001) (111)
Aberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage. (2007) (111)
Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. (1999) (110)
Variation in the 4q25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Artery Bypass Graft Surgery (2009) (110)
Role of Cardiac Myosin Binding Protein C in Sustaining Left Ventricular Systolic Stiffening (2004) (109)
IL-12 is required for differentiation of pathogenic CD8+ T cell effectors that cause myocarditis. (2003) (108)
Biosynthesis and secretion of proatrial natriuretic factor by cultured rat cardiocytes. (1985) (108)
Effects of losartan on left ventricular hypertrophy and fibrosis in patients with nonobstructive hypertrophic cardiomyopathy. (2013) (107)
Brazilian urban population genetic structure reveals a high degree of admixture (2011) (107)
Genetics of cardiovascular disease. (2000) (106)
Comparative Proteomics Profiling of a Phospholamban Mutant Mouse Model of Dilated Cardiomyopathy Reveals Progressive Intracellular Stress Responses*S (2008) (106)
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin (2019) (104)
Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. (1998) (103)
Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development (2011) (102)
Haploinsufficiency of MSX1: a Mechanism for Selective Tooth Agenesis (1998) (101)
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. (2011) (101)
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation. (2010) (98)
Targeted Ablation of the Murine α-Tropomyosin Gene (1997) (98)
A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. (1998) (97)
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model (2002) (97)
Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. (1993) (97)
Hereditary inclusion body myopathy maps to chromosome 9p1-q1. (1996) (97)
Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies. (2019) (96)
Molecular genetic studies of familial hypertrophic cardiomyopathy (1998) (96)
Force Generation via β-Cardiac Myosin, Titin, and α-Actinin Drives Cardiac Sarcomere Assembly from Cell-Matrix Adhesions. (2018) (95)
Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. (2000) (94)
Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function (2006) (94)
Divergent pathways mediate the induction of ANF transgenes in neonatal and hypertrophic ventricular myocardium. (1995) (94)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale (2020) (93)
Introduction of plasmid DNA into cells. (2001) (93)
Complement genes contribute sex-biased vulnerability in diverse illnesses (2020) (92)
Increased &agr;2 Subunit–Associated AMPK Activity and PRKAG2 Cardiomyopathy (2005) (92)
Dissecting spatio-temporal protein networks driving human heart development and related disorders (2010) (92)
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research (2017) (92)
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy (2017) (92)
A systematic approach to the reporting of medically relevant findings from whole genome sequencing (2014) (91)
Altered crossbridge kinetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. (1999) (90)
Narrative Review: Harnessing Molecular Genetics for the Diagnosis and Management of Hypertrophic Cardiomyopathy (2010) (87)
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36 (1994) (86)
Eya4-deficient mice are a model for heritable otitis media. (2008) (85)
Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia. (2005) (85)
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (2010) (85)
Reversibility of PRKAG2 Glycogen-Storage Cardiomyopathy and Electrophysiological Manifestations (2008) (85)
A novel custom resequencing array for dilated cardiomyopathy (2010) (83)
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia (2004) (82)
Functional Characterization of a Novel Mutation in NKX2-5 Associated With Congenital Heart Disease and Adult-Onset Cardiomyopathy (2013) (80)
Molecular profiling of dilated cardiomyopathy that progresses to heart failure. (2016) (80)
An RNA‐seq protocol to identify mRNA expression changes in mouse diaphyseal bone: Applications in mice with bone property altering Lrp5 mutations (2013) (80)
beta-Arrestin1 knockout mice appear normal but demonstrate altered cardiac responses to beta-adrenergic stimulation. (1997) (79)
Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy (2008) (79)
An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line (2007) (78)
Cis-acting sequences that modulate atrial natriuretic factor gene expression. (1988) (78)
Missense mutation in the pore region of HERG causes familial long QT syndrome. (1996) (78)
Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. (2004) (76)
Mutations in human TBX3 alter limb, apocrine, and genital development in ulnar-mammary syndrome (1998) (75)
Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation: A Common Cause of Hypertrophic Cardiomyopathy (2010) (75)
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism (1995) (75)
A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. (1990) (74)
A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. (1994) (73)
Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods (2009) (73)
Biochemistry and genetics of Klebsiella pneumoniae mutant strains unable to fix N2 (1975) (73)
Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy. (2018) (73)
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis. (2016) (71)
Activin type II receptor signaling in cardiac aging and heart failure (2019) (70)
Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy (2014) (69)
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2017) (68)
The Role of Cardiac Troponin T Quantity and Function in Cardiac Development and Dilated Cardiomyopathy (2008) (68)
Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy (2012) (67)
Genomic analyses implicate noncoding de novo variants in congenital heart disease (2020) (66)
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection (2009) (65)
Identification of genetic loci associated with paralysis, inflammation and weight loss in mouse experimental autoimmune encephalomyelitis. (2001) (63)
Amyloid-beta proteins activate Ca(2+)-permeable channels through calcium-sensing receptors. (1997) (62)
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients (2017) (62)
Alpha 1-adrenergic receptor mRNA level is regulated by norepinephrine in rabbit aortic smooth muscle cells. (1990) (60)
A De Novo Mutation in α-Tropomyosin That Causes Hypertrophic Cardiomyopathy (1995) (60)
Nationwide Study on Hypertrophic Cardiomyopathy in Iceland: Evidence of a MYBPC3 Founder Mutation (2014) (60)
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data (2022) (60)
Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. (1993) (59)
A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy. (2001) (58)
Proximal Regulatory Domains of Rat Atrial Natriuretic Factor Gene (1991) (58)
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing (2017) (58)
5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy. (2014) (58)
Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy (2010) (56)
Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome. (2003) (56)
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function. (1997) (56)
An α-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes. (1999) (56)
Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy. (1999) (56)
How should hypertrophic cardiomyopathy be classified?: What's in a name? Dilemmas in nomenclature characterizing hypertrophic cardiomyopathy and left ventricular hypertrophy. (2009) (56)
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans (2016) (56)
Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor (2018) (55)
Effect of Cardiac Myosin Binding Protein-C on Mechanoenergetics in Mouse Myocardium (2004) (55)
Ventricular Arrhythmia Vulnerability in Cardiomyopathic Mice With Homozygous Mutant Myosin-Binding Protein C Gene (2001) (53)
Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice. (2015) (52)
Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals (2018) (51)
Biobank participants' preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project. (2014) (50)
A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5. (2002) (49)
Loss of RNA expression and allele-specific expression associated with congenital heart disease (2016) (49)
Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35 (2009) (48)
CRISPR/Cas9‐Mediated Fluorescent Tagging of Endogenous Proteins in Human Pluripotent Stem Cells (2018) (47)
Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex. (2008) (47)
Alterations of Phospholamban Function Can Exhibit Cardiotoxic Effects Independent of Excessive Sarcoplasmic Reticulum Ca2+-ATPase Inhibition (2009) (47)
Marked Up-Regulation of ACE2 in Hearts of Patients With Obstructive Hypertrophic Cardiomyopathy: Implications for SARS-CoV-2–Mediated COVID-19 (2020) (47)
Cloning and functional characterization of extracellular Ca(2+)-sensing receptors from parathyroid and kidney. (1995) (47)
UBQLN2 mutation causing heterogeneous X‐linked dominant neurodegeneration (2014) (46)
Genetics and disease of ventricular muscle. (2014) (46)
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain (2015) (46)
Paternal-age-related de novo mutations and risk for five disorders (2017) (46)
Genomic frontiers in congenital heart disease (2021) (46)
Hypertrophic cardiomyopathy: Translating cellular cross talk into therapeutics (2012) (46)
Consequences of Pressure Overload on Sarcomere Protein Mutation-Induced Hypertrophic Cardiomyopathy (2003) (45)
The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study (2017) (45)
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. (2014) (45)
SarcTrack: An Adaptable Software Tool for Efficient Large-Scale Analysis of Sarcomere Function in hiPSC-Cardiomyocytes (2019) (45)
Introduction of Plasmid DNA into Cells (2000) (45)
Targeted ablation of the murine alpha-tropomyosin gene. (1997) (45)
Cao‐sensing receptor (CaR)‐mediated activation of K+ channels is blunted in CaR gene‐deficient mouse neurons (1997) (45)
Eya4 regulation of Na+/K+-ATPase is required for sensory system development in zebrafish (2008) (45)
Three inherited disorders of calcium sensing. (1996) (44)
Clinical Outcome and Phenotypic Expression in LAMP 2 Cardiomyopathy (2009) (43)
Natriuretic Peptide System Gene Variants Are Associated with Ventricular Dysfunction after Coronary Artery Bypass Grafting (2009) (43)
Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice. (2010) (43)
Telomere shortening is a hallmark of genetic cardiomyopathies (2018) (43)
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes (2019) (43)
Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C (2004) (43)
Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy. (1994) (43)
Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy. (2019) (42)
N488I Mutation of the γ2-Subunit Results in Bidirectional Changes in AMP-Activated Protein Kinase Activity (2005) (42)
Precision Medicine in the Management of Dilated Cardiomyopathy: JACC State-of-the-Art Review. (2019) (42)
Electrophysiologic Characteristics of Accessory Atrioventricular Connections in an Inherited Form of Wolff‐Parkinson‐White Syndrome (1999) (42)
cis-dominance of rat atrial natriuretic factor gene regulatory sequences in transgenic mice. (1991) (42)
Deficient Cation Channel Regulation in Neurons From Mice With Targeted Disruption of the Extracellular Ca2+-Sensing Receptor Gene (1997) (42)
Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter (2017) (41)
A One-Page Summary Report of Genome Sequencing for the Healthy Adult (2015) (41)
Connexin 40, a Target of Transcription Factor Tbx5, Patterns Wrist, Digits, and Sternum (2005) (40)
Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis (2015) (40)
CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets. (1998) (39)
NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity (2015) (39)
Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease. (2019) (39)
Inhospital CPR 25 Years Later: Why Has Survival Decreased? (1985) (37)
Spatial transcriptional profile of the chick and mouse endocardial cushions identify novel regulators of endocardial EMT in vitro. (2013) (37)
Altered Crossbridge Kinetics in the a MHC 403 / 1 Mouse Model of Familial Hypertrophic Cardiomyopathy (1999) (36)
THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage (2016) (36)
Novel Therapies for Prevention and Early Treatment of Cardiomyopathies. (2019) (36)
An alpha-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes. (1999) (36)
Familial Hypertrophic Cardiomyopathy Mice Display Gender Differences in Electrophysiological Abnormalities (1997) (35)
&bgr;-Myosin Heavy Chain Variant Val606Met Causes Very Mild Hypertrophic Cardiomyopathy in Mice, but Exacerbates HCM Phenotypes in Mice Carrying Other HCM Mutations (2014) (35)
HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss (2013) (35)
Robust identification of mosaic variants in congenital heart disease (2018) (34)
DNA Break-Induced Epigenetic Drift as a Cause of Mammalian Aging (2019) (34)
Cardiac-enriched BAF chromatin-remodeling complex subunit Baf60c regulates gene expression programs essential for heart development and function (2017) (33)
Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies (2016) (32)
Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy (2018) (32)
Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7 (2006) (31)
Sarcomere Gene Mutations in Hypertrophy and Heart Failure (2010) (31)
Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy. (1994) (31)
A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance (2018) (31)
Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy (2021) (29)
Cardiomyocyte-enriched protein CIP protects against pathophysiological stresses and regulates cardiac homeostasis. (2015) (29)
Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy. (1991) (28)
Increased glycogen stores due to gamma-AMPK overexpression protects against ischemia and reperfusion damage. (2008) (28)
Cardiac myosin binding protein-C is essential for thick-filament stability and flexural rigidity. (2009) (28)
Atrial natriuretic factor: assessment of its structure in atria and regulation of its biosynthesis with volume depletion. (1986) (27)
Adult Hallervorden–Spatz syndrome simulating amyotrophic lateral sclerosis (2003) (27)
The Genomic Architecture of Sporadic Heart Failure (2011) (27)
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies (2022) (27)
Accelerated Cardiomyopathy in Mice With Overexpression of Cardiac Gsα and a Missense Mutation in the α-Myosin Heavy Chain (2002) (26)
SarcTrack (2019) (26)
Photoaffinity labeling of the alpha 1-adrenergic receptor using an 125I-labeled aryl azide analogue of prazosin. (1984) (26)
Using Next-generation RNA Sequencing to Examine Ischemic Changes Induced by Cold Blood Cardioplegia on the Human Left Ventricular Myocardium Transcriptome (2015) (26)
Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. (2009) (26)
Ouabain induces secretion of proatrial natriuretic factor by rat atrial cardiocytes. (1988) (26)
A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy. (1995) (26)
Complement genes contribute sex-biased vulnerability in diverse disorders (2020) (25)
Genomewide Linkage in a Large Caucasian Family Maps a New Locus for Intracranial Aneurysms to Chromosome 13q (2009) (25)
SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes (2020) (24)
Tbx5 Is Required for Avian and Mammalian Epicardial Formation and Coronary Vasculogenesis (2014) (24)
Yin Yang 1 Suppresses Dilated Cardiomyopathy and Cardiac Fibrosis Through Regulation of Bmp7 and Ctgf. (2019) (24)
Molecular Studies of the Atrial Natriuretic Factor Gene (1985) (24)
Differentiation and Contractile Analysis of GFP‐Sarcomere Reporter hiPSC‐Cardiomyocytes (2018) (24)
N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity. (2005) (23)
A classic twin study of external ear malformations, including microtia. (2009) (23)
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease (2020) (23)
The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle (2017) (23)
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy (2018) (23)
Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. (1999) (23)
CLINICAL STUDIES Hypertrophic Cardiomyopathy Development of Left Ventricular Hypertrophy in Adults With Hypertrophic Cardiomyopathy Caused by Cardiac Myosin-Binding Protein C Gene Mutations (2001) (23)
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm (2020) (22)
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility (2019) (22)
Progress in familial hypertrophic cardiomyopathy: molecular genetic analyses in the original family studied by Teare. (1992) (22)
Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. (2013) (22)
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. (1998) (22)
Prevention of Ventricular Arrhythmia and Calcium Dysregulation in a Catecholaminergic Polymorphic Ventricular Tachycardia Mouse Model Carrying Calsequestrin‐2 Mutation (2011) (21)
Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young (2016) (21)
QT Dispersion in α-Myosin Heavy-Chain Familial Hypertrophic Cardiomyopathy Mice (1999) (21)
Alpha blockade potentiates CPVT therapy in calsequestrin-mutant mice. (2013) (21)
Sex differences in gene expression in response to ischemia in the human left ventricular myocardium. (2019) (21)
Pheochromocytoma-Induced Cardiomyopathy is Modulated by the Synergistic Effects of Cell-Secreted Factors (2009) (21)
Inherited causes of clonal haematopoiesis in 97,691 whole genomes (2020) (21)
Dissection of Chromosome 18 Blood Pressure and Salt-Sensitivity Quantitative Trait Loci in the Spontaneously Hypertensive Rat (2009) (20)
Valsartan in early-stage hypertrophic cardiomyopathy: a randomized phase 2 trial (2021) (20)
Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy. (2020) (20)
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease (2020) (19)
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery (2018) (19)
Cells and gene expression programs in the adult human heart (2020) (19)
Synthesis and characterization of a radioiodinated photoaffinity probe for the alpha 1-adrenergic receptor. (1984) (19)
BET Bromodomain Proteins Regulate Transcriptional Reprogramming in Genetic Dilated Cardiomyopathy (2020) (19)
ViroFind: A novel target-enrichment deep-sequencing platform reveals a complex JC virus population in the brain of PML patients (2018) (18)
Molecular medicine in the 21st century (2001) (18)
Accelerated cardiomyopathy in mice with overexpression of cardiac G(s)alpha and a missense mutation in the alpha-myosin heavy chain. (2002) (18)
Corrigendum to “Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis” [Dev. Biol. 297 (2006) 566–586] (2007) (18)
Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes (2017) (18)
The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing. (1995) (18)
Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure. (2006) (18)
CD36 overexpression predisposes to arrhythmias but reduces infarct size in spontaneously hypertensive rats: gene expression profile analysis. (2012) (18)
Cardiac Septation A Late Contribution of the Embryonic Primary Myocardium to Heart Morphogenesis (2002) (18)
Genome sequencing unveils a regulatory landscape of platelet reactivity (2019) (18)
Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (2012) (17)
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)) (2016) (17)
Proatrial natriuretic factor is phosphorylated by rat cardiocytes in culture. (1987) (17)
Diastolic Dysfunction and Altered Energetics in the a MHC 403 / 1 Mouse Model of Familial Hypertrophic Cardiomyopathy (1998) (17)
Transcriptional Profiling of Cultured, Embryonic Epicardial Cells Identifies Novel Genes and Signaling Pathways Regulated by TGFβR3 In Vitro (2016) (17)
Causes of clinical diversity in human TBX5 mutations. (2002) (16)
Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease. (2019) (16)
Exercise training improves cardiac function and attenuates arrhythmia in CPVT mice. (2012) (16)
Detection of Cell Proliferation Markers by Immunofluorescence Staining and Microscopy Imaging in Paraffin‐Embedded Tissue Sections (2016) (16)
CalTrack: High Throughput Automated Calcium Transient Analysis in Cardiomyocytes. (2021) (16)
Genetic causes of inherited cardiac hypertrophy: Robert L. Frye Lecture. (2002) (16)
Variation in the 4 q 25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Artery Bypass Graft Surgery (2009) (16)
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles (2020) (16)
Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. (1999) (15)
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed (2022) (15)
Dynamic Cellular Integration Drives Functional Assembly of the Heart’s Pacemaker Complex (2018) (15)
Deep Sequence Analysis of Gene Expression Identifies Osteopontin as a Downstream Effector of Integrin-Linked Kinase (ILK) in Cardiac-Specific ILK Knockout Mice (2013) (15)
Genome-wide identification of mouse congenital heart disease loci. (2010) (14)
The Role of the L-Type Ca2+ Channel in Altered Metabolic Activity in a Murine Model of Hypertrophic Cardiomyopathy (2016) (14)
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency (2021) (14)
Isolation of Nuclei from Mammalian Cells and Tissues for Single‐Nucleus Molecular Profiling (2021) (14)
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 (2011) (14)
Harnessing Molecular Genetics for the Diagnosis and Management of Hypertrophic Cardiomyopathy (2010) (14)
Genetic Testing and Counseling for Hypertrophic Cardiomyopathy. (2019) (13)
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. (2020) (13)
Joint analysis of left ventricular expression and circulating plasma levels of Omentin after myocardial ischemia (2017) (13)
Molecular epidemiology of hypertrophic cardiomyopathy. (2002) (13)
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease (2020) (13)
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) (2021) (12)
Discordant clinical features of identical hypertrophic cardiomyopathy twins (2021) (12)
The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2). (2013) (11)
Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation (2021) (11)
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy (2005) (11)
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients (2020) (11)
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy (2018) (11)
Myocardial Iron Deficiency and Mitochondrial Dysfunction in Advanced Heart Failure in Humans (2022) (10)
Preparation of rAAV9 to Overexpress or Knockdown Genes in Mouse Hearts. (2016) (10)
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis. (2017) (10)
Heritable Cardiac Conduction and Myocardial Disease: From the Clinic to the Basic Science Laboratory and Back to the Clinic (2011) (10)
Conquering Atherosclerotic Cardiovascular Disease - 50 Years of Progress. (2021) (10)
Engineering a living cardiac pump on a chip using high-precision fabrication (2022) (9)
THSD 1 ( Thrombospondin Type 1 Domain Containing Protein 1 ) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage (2017) (9)
The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication (2019) (9)
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity (2015) (9)
Transcription factor protein interactomes reveal genetic determinants in heart disease (2022) (9)
Human Induced Pluripotent Stem Cell Production and Expansion from Blood using a Non‐Integrating Viral Reprogramming Vector (2018) (8)
De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects (2016) (8)
Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM (2009) (8)
An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations. (1994) (8)
Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches (2020) (8)
ABSENCE OF MAJOR DELETIONS OR REARRANGEMENTS OF CARDIAC MYOSIN HEAVY-CHAIN GENES IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY (1993) (8)
chapter 16 – Molecular Genetics of Inherited Cardiomyopathies (2004) (7)
Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers (2020) (7)
Constitutively active AMP kinase mutations cause WPW and glycogen storage disease mimicking hypertrophic cardiomyopathy (2002) (7)
An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels (2018) (7)
Age-related autocrine diabetogenic effects of transgenic resistin in spontaneously hypertensive rats: gene expression profile analysis. (2011) (6)
Advanced assessment of cardiac morphology and prediction of gene carriage by CMR in hypertrophic cardiomyopathy - the HCMNet/UCL collaboration (2014) (6)
ORE identifies extreme expression effects enriched for rare variants (2019) (6)
A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects (2017) (6)
Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation (2021) (6)
Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic. (2014) (6)
Molecular Genetics of Lidocaine-Containing Cardioplegia in the Human Heart During Cardiac Surgery. (2018) (6)
The Transcriptional Signature of Growth in Human Fetal Aortic Valve Development. (2018) (6)
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with asthma. (2019) (6)
QT dispersion in alpha-myosin heavy-chain familial hypertrophic cardiomyopathy mice. (1999) (6)
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome (2021) (5)
Echocardiography and Cardiac MRI in Mutation‐Negative Hypertrophic Cardiomyopathy in an Older Patient: A Case Defining the Need for ICD (2014) (5)
Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130. (1996) (5)
Luteinizing Hormone-Releasing Hormone and Postmenopausal Flushing (2009) (5)
In Vivo and In Vitro Methods to Identify DNA Sequence Variants that Alter RNA Splicing (2018) (5)
Identifying Candidate Genes (2012) (5)
Genetics of pediatric cardiomyopathies (2017) (5)
Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse model (2022) (5)
The Muscle-Bound Heart. (2016) (5)
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY IS A DISEASE OF THE SARCOMERE (1994) (5)
Sarcomere Protein Mutations Cause Dilated Cardiomyopathy (2001) (5)
Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy (2021) (5)
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects (2020) (5)
LAMP2 Cardiomyopathy: Consequences of Impaired Autophagy in the Heart (2021) (5)
Congenital Heart Defects Due to TAF1 Missense Variants. (2020) (5)
Genome-Wide Assessment for Genetic Variants Associated with Ventricular Dysfunction after Primary Coronary Artery Bypass Graft Surgery (2011) (5)
Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23 (2020) (5)
HLA and other immunogenetic approaches to the study of diseases in man. (1977) (4)
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors (2017) (4)
Closing the Genotype-Phenotype Loop for Precision Medicine (2017) (4)
Sarcomere protein gene mutations: A frequent cause of elderly-onset hypertrophic cardiomyopathy. (2000) (4)
IDENTIFICATION OF NOVEL MYOSIN MUTATIONS THAT CAUSE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY (1992) (4)
The imperative to invest in science has never been greater. (2014) (4)
A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q. (1993) (4)
The Good SHP2 Association: a porthole into the genetics of congenital heart disease. (2012) (4)
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies (2022) (4)
Early remodeling of repolarizing K+ currents in the αMHC403/+ mouse model of familial hypertrophic cardiomyopathy. (2017) (4)
Biochemistry andGenetics ofKlebsiella pneumoniae Mutant Strains Unable toFixN2 (1975) (4)
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy (2020) (4)
Probing the subcellular nanostructure of engineered human cardiomyocytes in 3D tissue (2021) (3)
Fundamental Cardiovascular Research: Returns on Societal Investment: A Scientific Statement From the American Heart Association. (2017) (3)
Searching Candidate Genes for Mutations (2000) (3)
Summary The T-Box transcription factor Tbx 5 is required for the patterning and maturation of the murine cardiac conduction system (2004) (3)
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)". (2019) (3)
Cardiovascular Genomics (2006) (3)
Genetics of cancer therapy-associated cardiotoxicity. (2022) (3)
A novel lamin A/C missense mutation in a family with autosomal dominant dilated cardiomyopathy with conduction abnormalities (2002) (3)
Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization (2021) (3)
Functional Effects of the TMEM 43 Ser 358 Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy (2012) (3)
Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals (2022) (3)
The Good SHP 2 Association : A Porthole Into the Genetics of Congenital Heart Disease (2012) (3)
Review: Molecular Approaches to the Study of Atrial Natriuretic Factor (1987) (3)
Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses (2019) (3)
MYBPC3 Mutations cause Hypertrophic Cardiomyopathy by Dysregulating Myosin: Implications for Therapy (2018) (3)
Genetic Mutations that Remodel the Heart in Hypertrophic Cardiomyopathy (2007) (3)
Early post-zygotic mutations contribute to congenital heart disease (2019) (3)
Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere (2022) (3)
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 (2015) (3)
Hypertrophy, electrical abnormalities, autophagic vacuoles accumulation and cardiac fibrosis in LAMP2 cardiomyopathy mouse model (2007) (3)
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity (2022) (2)
Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies (2016) (2)
A dinucleotide repeat polymorphism in the MYBPH gene. (1994) (2)
The coming of age of cardiovascular science. (2002) (2)
Abstract 402: Defining Diverse Disease Pathomechanisms Across Thick And Thin Filament Hypertrophic Cardiomyopathy Variants. (2021) (2)
Abstract 290: Proliferation of Cardiac Fibroblasts Defines Early Stages of Genetic Dilated Cardiomyopathy and Precedes Myocardial Metabolic Derangement (2014) (2)
Direct Reprogramming of Non-limb Fibroblasts to Cells with Properties of Limb Progenitors (2021) (2)
Conundrum of sudden cardiac death: making sense of missense. (2013) (2)
An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations (2022) (2)
The management of hypertrophic cardiomyopathy - Reply (1997) (2)
2 NEW LOCI FOR HYPERTROPHIC CARDIOMYOPATHY MAP TO CHROMOSOME-15Q2 (CMH3) AND CHROMOSOME-11Q (CMH4) (1993) (2)
Epigenomic Control of Cardiac Fibrosis by Bet Bromodomain Proteins in Dilated Cardiomyopathy (2018) (2)
CalTrack (2021) (2)
Abstract 4404: Variation in the 4q25 Chromosomal Locus Predicts New-Onset Atrial Fibrillation after Cardiac Surgery (2008) (2)
Effects of Mutant Gene Dosage on Phenotype (2016) (2)
Cardiac Myosin Binding Protein-C Autoantibodies Are Potential Early Indicators of Cardiac Dysfunction and Patient Outcome in Acute Coronary Syndrome (2017) (2)
Evaluation of Mitral Valve Regurgitation : Implications for Percutaneous Mitral Valve Repair (1)
Abstract 279: A Deletion In The N2A Region Of Titin Carried By Muscular Dystrophy With Myositis (mdm) Mice Severely Affects Skeletal Muscle, But Not The Heart (2014) (1)
Altered regulatory function of two FHC Troponin T mutants. (1998) (1)
Abstract 339: Biomechanics and Calcium Handling of Thin Filament Hypertrophic Cardiomyopathy Variants (2019) (1)
GENETIC TESTING FOR HYPERTROPHIC CARDIOMYOPATHY - REPLY (1992) (1)
Different Transcriptomic Response to T. cruzi Infection in hiPSC-Derived Cardiomyocytes From Chagas Disease Patients With and Without Chronic Cardiomyopathy (2022) (1)
Autophagy Guided Interventions to Modify the Cardiac Phenotype of Danon Disease. (2022) (1)
Abstract 772: The Highly Prevalent 25bp Intronic Deletion in MYBPC3 is Benign Under Baseline Conditions (2019) (1)
Abstract 46: Identification of Novel Alternate Splicing Events in Humans With RBFOX2 Mutations and Hypoplastic Left Heart Syndrome (2015) (1)
Molecular approaches to the study of atrial natriuretic factor. (1987) (1)
Sequencing of TGF- Pathway Genes in Familial Cases of Intracranial Aneurysm (2009) (1)
IDENTIFYING NOVEL MOLECULAR MECHANISMS IN DILATED CARDIOMYOPATHY: INSIGHTS INTO TREATMENT AND PREVENTION (2011) (1)
THE R21C MUTATION IN TROPONIN I HAS A FOUNDER EFFECT IN SOUTH LEBANON AND CAUSES MALIGNANT HYPERTROPHIC CARDIOMYOPATHY (2015) (1)
A Novel Role for CSRP 1 in a Lebanese Family with Congenital Cardiac Defects (2017) (1)
163 Integrated allelic, transcriptional, and phenotypic dissection of the cardiac effects of titin variation in health and disease (2015) (1)
Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics (2021) (1)
The Pleiotropic Effects of Statins : Fact or Fantasy ? (1)
Abstract 19355: BET Bromodomain Proteins Are Critical Regulators of Molecular Reprogramming in Genetic Dilated Cardiomyopathy (2017) (1)
Nkx2-5 mutations affect diverse cardiac developmental pathways (1999) (1)
Tuesday, 28 August 2012 (2012) (1)
Genome-wide association study for Chagas Cardiomyopathy identify a new risk locus on chromosome 18 associated with an immune-related protein and transcriptional signature (2022) (1)
Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program (2021) (1)
The molecular basis for atrial natriuretic factor gene expression (1988) (1)
Neither cardiac mitochondrial DNA variation or copy number contribute to congenital heart disease risk. (2022) (1)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis (2022) (1)
Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy (2020) (1)
Sex differences in gene expression in response to ischemia in the human myocardium (2018) (1)
UNEXPECTED IDENTIFICATION OF FABRY DISEASE AMONG PATIENTS WITH THE CLINICAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY IN ICELAND (2014) (1)
Abstract 2277: Verapamil Prevents Fatal Arrhythmia by Blocking Cardiac Ryanodine Receptor in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia Carrying Calsequestrin-2 Mutation (2009) (1)
Abstract 16269: Targeted Deletion of Thioredoxin-Interacting Protein (Txnip) Enhances Anaerobic Metabolism and Mitochondrial Thioredoxin Activity and Protects the Heart from Ischemia Reperfusion Injury (2010) (1)
Racial Differences in the use of Genetic Testing among Patients with Hypertrophic Cardiomyopathy (2019) (1)
Inherited Causes of Cardiovascular Disease (2012) (1)
Structure and Expression of the Atrial Natriuretic Factor Gene (1987) (1)
Cardiac-specific overexpression of mutant gamma2 AMPK subunit causes abnormal glucose metabolism and cardiomyopathy in mouse (2003) (1)
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
Human iPSC-CMs and in-silico technologies define mechanisms and accelerate targeted pharmacogenetics in hypertrophic cardiomyopathy (2022) (1)
Combinated transfection of wild type and a hypertrophic cardiomyopathy mutant cardiac troponin T makes quail myotubes likely good turn in expression and functional assessment. (1996) (1)
Analyses of cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy (1992) (1)
A TBX5 dosage-sensitive gene regulatory network for human congenital heart disease (2019) (1)
Treatment of Hypertrophic Cardiomyopathy (2011) (0)
Abstract 104: Identification and Characterization of a Titin Enhancer using CRISPR/Cas9 Genome Editing and hiPSC-Derived Cardiomyocytes (2019) (0)
Response to Elliott and McKenna (2009) (0)
Late-onset primary LVHHCM versus cardiac fabry variant: reply (2002) (0)
Cells of the adult human heart (2020) (0)
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy (2018) (0)
Abstract 467: Identification of Novel Pathogenic Mutations in Non-Canonical RNA Splice Sites in Congenital Heart Disease (2019) (0)
Abstract 351: Optimizing the Frequency of Surveillance Echocardiography in Clinically Stable Patients With Hypertrophic Cardiomyopathy (2014) (0)
Searching Candidate Genes for Sequence Variation: Mutations and Polymorphisms (2011) (0)
P4-14: Partial lamin A/C deficiency causes cardiac conduction system disease due to apoptotic cell death in a laminopathy mouse model (2006) (0)
Abstract 860: Functional Characterization of a Novel Human Heart-specific Microprotein With a Potential Mitochondrial Localization and Role in Sarcomere Dynamics (2019) (0)
DIASTOLIC FUNCTION IN MYOSIN-BINDING PROTEIN C FOUNDER MUTATION CARRIERS WITH AND WITHOUT CLINICAL EVIDENCE OF HYPERTROPHIC CARDIOMYOPATHY (2019) (0)
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease (2023) (0)
Genetic Cardiomyopathies (2020) (0)
Genomic analyses implicate noncoding de novo variants in congenital heart disease (2020) (0)
fibrillationin animals susceptible to ventricular submaximal onset and heart rate recovery responses to Effect of endurance exercise training on heart rate (2015) (0)
Identiﬁcation of genetic loci associated with paralysis, inﬂammation and weight loss in mouse experimental autoimmune encephalomyelitis (2001) (0)
Genetics and Heart Failure: Hypertrophic Cardiomyopathy (2006) (0)
IS002 MOLECULAR MECHANISMS OF CARDIAC DEVELOPMENTAL ANOMALIES : REGULATION OF CARDIAC SEPTATION (1997) (0)
Genetic Pathways in Congenital Heart Development (2015) (0)
In Memorium (2002) (0)
Abstract 184: Calsequestrin Mutation Causes Arrhythmia Related to the Intraluminal Ca2+ Transient Abnormality (2006) (0)
Genetic Causes of Atrial Septal Defects (2000) (0)
Abstract 17982: A lamin A/C Synonymous Mutation Creates a Novel Splice Site and Causes Progressive Atrioventricular Conduction Defect (2014) (0)
Paternal-age-related de novo mutations and risk for five disorders (2019) (0)
Mechanism based therapies enable personalised treatment of hypertrophic cardiomyopathy (2022) (0)
Molecular Genetics: New Mutations that Cause Familial Hypertrophic Cardiomyopathy (1995) (0)
Accelerated Cardiomyopathy in Mice With Overexpression of Cardiac Gs&agr; and a Missense Mutation in the &agr;-Myosin Heavy Chain (2002) (0)
Photoaffinity labeling of the. cap alpha. /sub 1/-adrenergic receptor using an /sup 125/I-labeled aryl azide analogue of prazosin. [Rats] (1984) (0)
Searching Candidate Genes for Mutations (2000) (0)
Abstract P198: Aberrant Activation of γ2-AMPK Causes Cardiac Hypertrophy Independent of Glycogen Storage (2011) (0)
Abstract 20232: Haploinsufficiency of MYBPC3 in the Development of Hypertrophic Cardiomyopathy (2014) (0)
Characterising L-type Ca2+ Channel Function and Mitochondrial Function in Two Murine Models of Familial Hypertrophic Cardiomyopathy (2013) (0)
Fabry Disease in Families With Hypertrophic Cardiomyopathy (2017) (0)
PEDIATRIC CARDIOMYOPATHY MUTATIONS IN A HIGHLY CONSANGUINEOUS POPULATION (2016) (0)
Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C. (2004) (0)
Abstract 1789: Genomic Analyses Identify New Loci and Genes in Isolated, Sporadic Congenital Heart Disease (2009) (0)
Abstract 19567: LAMP2 Cardiomyopathy: The Consequences of Impaired Autophagy (2010) (0)
Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
Accelerated Cardiomyopathy in Mice With Overexpression of Cardiac G s (cid:1) and a Missense Mutation in the (cid:1) -Myosin Heavy Chain (2002) (0)
IEWPOINT roposal for Contemporary Screening Strategies n Families With Hypertrophic Cardiomyopathy (2004) (0)
Abstract 228: Multi-omics Mapping Generates a Molecular Atlas of the Aortic Valve and Reveals Networks Driving Disease (2018) (0)
Author response: GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm (2020) (0)
Severe cardiac phenotype in a double-mutant model of familial hypertrophic cardiomyopathy (FHC) (2007) (0)
Abstract 785: Modeling Congenital Heart Disease-Associated Variants in GATA6 Using CRISPR/Cas9 and Human Induced Pluripotent Stem Cells (2019) (0)
Characterising effects of a peptide directed against the L-type Ca2+ channel on mitochondrial function in hypertrophic cardiomyopathy (2015) (0)
Author response: GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm (2020) (0)
Author response: GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm (2020) (0)
25: RARE DE NOVO COPY NUMBER VARIANT IDENTIFIES NEW LOCUS IN NON-SYNDROMIC MICROTIA/ANOTIA (2010) (0)
Abstract 373: The Molecular Consequence of a Polymorphic 25bp Deletion in Intron 32 of MYBPC3, Specific to South Asians (2018) (0)
Mutations in human cardiac myosin binding protein C cause late-onset familiar hypertrophic cardiomyopathy (1997) (0)
Special Report Research Priorities in Hypertrophic Cardiomyopathy Report of a Working Group of the National Heart, Lung, and Blood Institute Genetic Cause (2010) (0)
Novel Mutations in the Lamin A/C Gene and Familial Dilated Cardiomyopapthy (2003) (0)
Unique cardiac phenotype in ALPK3-related disease: Progression from dilated cardiomyopathy to hypertrophic cardiomyopathy (2018) (0)
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease (2020) (0)
3 Cirino at al Comparing Panel and Whole Genome Sequencing in HCM Results Patient Characteristics (2017) (0)
The chromatin remodeling complex subunit Baf60c regulates essential gene expression programs in heart development (2011) (0)
as a genetic modifier in cardiomyopathy (2014) (0)
Tbx5 maintains atrial identity by regulating an atrial enhancer network (2023) (0)
Abstract 10336: Attenuation of Left Ventricular Fibrosis by Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy: A Randomized, Placebo Controlled, Double Blind Study (2013) (0)
The alpha-tropomyosin Asp175Asn missense mutation causes a benign form of hypertrophic cardiomyopathy (1996) (0)
OJ-511 Missense Mutations in Cardiac Ryanodine Receptor Gene Cause Hypertrophic Cardiomyopathy Associated with Ventricular Arrhythmia or Massive Hypertrophy(Cardiomyopathy, Basic (M) : OJ62)(Oral Presentation (Japanese)) (2004) (0)
Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community The Epidemiology (2006) (0)
Familial Hypertrophic Cardiomyopathy in Mice and Men (2000) (0)
Reduced stiffness of cardiac sarcomeres with truncated myosin binding protein-C (2001) (0)
SEQUENCE VARIANTS IN TITIN CAUSING SPLICING DEFECTS AND CARDIOMYOPATHY: INSIGHTS FOR GENE BASED DIAGNOSIS AND NORMAL PHYSIOLOGY (2020) (0)
A conversation with Christine Seidman. Interview by Ushma S. Neill. (2013) (0)
Preface (2011) (0)
mTOR signaling inhibition decreases lysosome migration and impairs the success of Trypanosoma cruzi infection and replication in cardiomyocytes. (2023) (0)
proteins during development of heart failure Exercise training normalizes altered calcium-handling (2015) (0)
Searching Candidate Genes for Sequence Variation: Mutations and Polymorphisms (2009) (0)
Searching Candidate Genes for Sequence Variation: Mutations and Polymorphisms (2008) (0)
Abstract 417: BET Bromodomain Inhibition Blunts Heart Failure Progression and Fibrosis in Genetic Cardiomyopathy (2016) (0)
Migration of Human Cardiac Progenitor Cells in the Infarcted Mouse Heart (0)
Abstract 021: Extended Proliferation Capacity of Cardiomyocytes is Insufficient to Complete Cardiac Regeneration in Mice with a Mutation of Cardiac Myosin Binding Protein C (2013) (0)
P096: Clinical and Genetic Analysis of Familial Migrainous Vertigo (2007) (0)
Sarcomeric Dilated Cardiomyopathy: Onset from Infancy to Late Adulthood (2009) (0)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale (2020) (0)
ELECTROCARDIOGRAPHIC FINDINGS IN MYOSIN-BINDING PROTEIN C FOUNDER MUTATION CARRIERS (2019) (0)
Erratum: Position statement, association of American physicians the imperative to invest in science has never been greater (Journal of Clinical Investigation (2014) 124:11 (5085) DOI:10.1172/JCI79469) (2014) (0)
A tribute to Ketty Schwartz (2008) (0)
Jack Whitescarver Is Named Permanent Director of the Office of AIDS Research at NIH (2002) (0)
CLINICOPATHOLOGIC CORRELATIONS IN CALCINEURIN Aα-DEFICIENT MICE (1996) (0)
Abstract 482: Modeling PKP2 Mutation Associated Arrhythmogenic Cardiomyopathy With CRISPR-edited iPSC-derived Cardiomyocytes in Engineered Cardiac Tissues (2019) (0)
HUMAN BETA CARDIAC HEAVY MEROMYOSIN INTERACTING-HEADS MOTIF OBTAINED BY HOMOLOGY MODELING (USING SWISS-MODEL) OF HUMAN SEQUENCE FROM APHONOPELMA HOMOLOGY MODEL (PDB-3JBH), RIGIDLY FITTED TO HUMAN BETA-CARDIAC NEGATIVELY STAINED THICK FILAMENT 3D-RECONSTRUCTION (EMD-2240) (2017) (0)
Abstract 571: MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy by Dysregulating Myosin: Implications for Therapy (2018) (0)
ASSESSMENT OF THE MOLECULAR DEFECT IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY (1993) (0)
Transforming Growth Factor-β Analysis of the VANISH Trial Cohort. (2023) (0)
[Using molecular genetics to guide the diagnosis and treatment of hypertrophic cardiomyopathy]. (2009) (0)
Response to Brodehl et al. (2018) (0)
HYPERTROPHIC CARDIOMYOPATHY IN ICELAND IS CHARACTERIZED BY LOW EVENT RATE CLINICAL COURSE AND MYBPC3 FOUNDER MUTATION (2014) (0)
Contribution of rare transmitted and de novo variants among 2 , 871 1 congenital heart disease probands (2017) (0)
Pathway Genes in Familial Cases of Intracranial Aneurysm β Sequencing of TGF-Print (2009) (0)
EXPRESSION AND FUNCTIONAL ASSESSMENT OF WILD-TYPE AND A HYPERTROPHIC CARDIOMYOPATHY MUTANT CARDIAC TROPONIN-T IN QUAIL MYOTUBES (1995) (0)
Abstract 13033: Titin Mutations in IPS Cells Define Sarcomere Insufficiency as a Cause of Dilated Cardiomyopathy (Best of Basic Science Abstract) (2015) (0)
Titin mutations in familial dilated cardiomyopathy (2001) (0)
Structure and organization of the human cardiac myosin binding protein-C gene enables analyses of familial hypertrophic cardiomyopathy mutations (1996) (0)
A Porthole Into the Genetics of Congenital Heart Disease (2012) (0)
Probing the subcellular nanostructure of engineered human cardiomyocytes in 3D tissue (2021) (0)
Abstract 4839: Colocalization of Regional MEF2 Activity With Myocardial Scarring in Hypertrophic Cardiomyopathy (2008) (0)
Characterising the Effects of a Peptide Directed Against the L-Type Ca2+ Channel on Mitochondrial Function in Hypertrophic Cardiomyopathy (2016) (0)
The Molecular Genetics of Familial Hypertrophic Cardiomyopathy (1993) (0)
List of Contributors (2020) (0)
Identifying Candidate Genes in Genomic DNA (2011) (0)
INHIBITION OF CARDIAC FIBROSIS MEDIATED BY NON-MYOCYTE PROLIFERATION IN HYPERTROPHIC CARDIOMYOPATHY (2010) (0)
A Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1-mediated Trabeculation Cessation (2022) (0)
Erratum: Mutations in human TBX3 alter limb, apocrine, and genital development in ulnar-mammary syndrome (Nature Genetics (1997) 16 (pp. 311- 315)) (1998) (0)
Searching Candidate Genes for Sequence Variation: Mutations and Polymorphisms (2006) (0)
Abstract P1007: Cardiac Fibroblast BAG3 Controls TGFBR2 Signaling And Contributes To Engineered Cardiac Tissue Function. (2022) (0)
chapter 14 – Monogenic Causes of Congenital Heart Disease (2004) (0)
Abstract 323: Growth Differentiation Factor-15 Is Upregulated in Profibrotic States of Dilated Cardiomyopathy and Not Hypertrophic Cardiomyopathy (2012) (0)
Practice Guidelines Consensus Documents and the European Society of Cardiology Committee for (2007) (0)
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery (2018) (0)
Searching for Mutations (2012) (0)
THE MOLECULAR BIOLOGY OF CARDIOVASCULAR DISORDERS: 753 (1995) (0)
Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor (2018) (0)
AuPS/ASB Meeting-Newcastle 2007 Symposium: Influencing factors in the fate of cardiac myocytes in heart disease (2007) (0)
Identifying Candidate Genes in Genomic DNA (2002) (0)
Discovery and analyses of pathogenic variants in explanted hearts from primary cardiomyopathy patients (2020) (0)
Abstract 1459: Tbx5 Regulates Progenitor Cell Migration During Cardiac Vasculogenesis (2008) (0)
Response to Brodehl et al. (2018) (0)
Cardiac-Specific Deletion of Integrin-Linked Kinase Induces Fibrosis, Apoptosis and Cardiomyopathy (2009) (0)
Cardiomyocyte infection by Trypanosoma cruzi promotes innate immune response and glycolysis activation (2023) (0)
Table of Contents (2020) (0)
Damaging variants in FOXI3 cause microtia and craniofacial microsomia (2022) (0)
Erratum: How to become a cardiovascular investigator (Journal of the American College of Cardiology (October 4, 2005) SUPPL. A)) (2005) (0)
Abstract 302: Four-and-a-half Lim Domain Protein-1 Upregulation via an Alternate Start Site Prepares the Left Atrium for Birth (2015) (0)
Abstract 921: Cardiomyopathies Secondary to Cardiac Troponin T Mutations Result from Abnormal Protein Function Rather than Haploinsufficiency (2006) (0)
Abstract 16448: Expression Quantitative Trait Loci in Human Myocardium (2012) (0)
Dynamic tissue-speci c H2Bub1 is required for human and mouse cardiogenesis (2022) (0)
MODE OF ACTION OF CARDIAC TROPONIN-T MUTATIONS IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY (1994) (0)
Abstract 15786: Ddit4L: A Novel Differential Regulator of mTor and Autophagy in Cardiomyocytes (2014) (0)
Rare Gene Mutations are a Common Cause of Pediatric Cardiac Hypertrophy (2007) (0)
Searching Candidate Genes for Sequence Variation: Mutations and Polymorphisms (2006) (0)
Scientists on the Spot: Putting a halt to hypertrophic cardiomyopathy. (2019) (0)
Multiplexed Single‐Nucleus RNA Sequencing Using Lipid‐Oligo Barcodes (2022) (0)
Abstract 231: Identification of a Titin Enhancer using hiPSC-Derived Cardiomyocytes and CRISPR/Cas9 Genome Editing (2018) (0)
Alterations of sarcomeric stoichiometry by nonsense mediated decay of MYBPC3-mRNA in hypertrophic cardiomyopathy patients with truncation mutations (2022) (0)
Multi-Omics Profiling of Hypertrophic Cardiomyopathy Reveals Altered Mechanisms in Mitochondrial Dynamics and Excitation–Contraction Coupling (2023) (0)
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study (2023) (0)
Searching Candidate Genes for Sequence Variation: Mutations and Polymorphisms (2008) (0)
Searching Candidate Genes for Sequence Variation: Mutations and Polymorphisms (2008) (0)
Direct Cardiomyocyte Reprogramming : A New Direction for Subject Collection The Biology of Heart Disease Genetics and Disease of Ventricular Muscle (2013) (0)
Robust identification of mosaic variants in congenital heart disease (2018) (0)
Abstract 73: Aberrant Activation of γ2-AMPK Increases Cardiac Growth Through Cellular Hypertrophy and Hyperplasia (2012) (0)
Abstract 202: The R21C Mutation in Troponin I Has a Founder Effect in South Lebanon and Causes Malignant Hypertrophic Cardiomyopathy (2019) (0)
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals (2018) (0)
Sequencing of TGF- (cid:1) Pathway Genes in Familial Cases of Intracranial Aneurysm (2009) (0)
Abstract 210: Transcriptomic Changes During Induced Pluripotent Stem Cell-derived Neural Crest Cell Differentiation Highlight Genes Involved in Endocardial Cushion and Cardiac Outflow Tract Development (2019) (0)
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. (2023) (0)
Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
Clonal haematopoiesis and risk of chronic liver disease (2023) (0)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (0)
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium (2021) (0)
Genetic Testing for Cardiomyopathies (2010) (0)
The Clinical Significance of Genetic Testing in Familial Hypertrophic Cardiomyopathy (1998) (0)
Variant-specific inflation factors for assessing population stratification at the phenotypic variance level (2021) (0)
Title : Hypertrophic Cardiomyopathy Mutations in MYBPC 3 Dysregulate Myosin : Implications for Therapy (2018) (0)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2020) (0)
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes (2021) (0)
C Integrated Allelic, Transcriptional, and Phenotypic Dissection of the Cardiac Effects of Titin Variation in Health and Diseaser (2015) (0)
T Cell Responses in Calc ineur in AoL-deficient Mice (2003) (0)
Abstract 341: Efficient Large-scale Sarcomere Tracking (sarctrack) to Assess HCM Variants in iPSC-CMs (2019) (0)

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