Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy

[1]  B. Gersh,et al.  Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. , 2014, Mayo Clinic proceedings.

[2]  Michael J Ackerman,et al.  Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise , 2014, Journal of Cardiovascular Translational Research.

[3]  M. Drazner,et al.  2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. , 2013, Journal of the American College of Cardiology.

[4]  J. Atherton,et al.  Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy , 2013, Genetics in Medicine.

[5]  K. Siminovitch,et al.  Toronto Hypertrophic Cardiomyopathy Genotype Score for Prediction of a Positive Genotype in Hypertrophic Cardiomyopathy , 2013, Circulation. Cardiovascular genetics.

[6]  Donald Wolfgeher,et al.  Population-Based Variation in Cardiomyopathy Genes , 2012, Circulation. Cardiovascular genetics.

[7]  P. Hammond,et al.  Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy , 2012, Circulation. Cardiovascular genetics.

[8]  Barry J Maron,et al.  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, Circulation.

[9]  L. Yeates,et al.  The emerging role of the cardiac genetic counselor. , 2011, Heart Rhythm.

[10]  Barry J Maron,et al.  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, The Journal of thoracic and cardiovascular surgery.

[11]  Mathew G. Wilson,et al.  Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities? , 2011, Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance.

[12]  D. Fatkin,et al.  Guidelines for genetic testing of inherited cardiac disorders. , 2011, Heart, lung & circulation.

[13]  Michael J Ackerman,et al.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). , 2011, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[14]  K. Siminovitch,et al.  Sarcomere Protein Gene Mutations in Patients With Apical Hypertrophic Cardiomyopathy , 2011, Circulation. Cardiovascular genetics.

[15]  D. Tester,et al.  Genetic Testing for Potentially Lethal, Highly Treatable Inherited Cardiomyopathies/Channelopathies in Clinical Practice , 2011, Circulation.

[16]  S. Antonarakis,et al.  Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice , 2011, Journal of Medical Genetics.

[17]  R. Porcher,et al.  Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. , 2010, European journal of medical genetics.

[18]  Michael J Ackerman,et al.  Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. , 2010, Journal of the American College of Cardiology.

[19]  A. Kimura,et al.  Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond , 2010, Journal of Human Genetics.

[20]  Michael J Ackerman,et al.  Genetic Testing for Long-QT Syndrome: Distinguishing Pathogenic Mutations From Benign Variants , 2009, Circulation.

[21]  G. Limongelli,et al.  A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy , 2009, Clinical genetics.

[22]  L. Hougs,et al.  Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives , 2009, Human mutation.

[23]  M. Gautel,et al.  Myosin Binding Protein C Positioned to Play a Key Role in Regulation of Muscle Contraction: Structure and Interactions of Domain C1 , 2008, Journal of molecular biology.

[24]  Rachael,et al.  Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. , 2008, Mayo Clinic proceedings.

[25]  S. Poths,et al.  Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy , 2008, Clinical chemistry.

[26]  E. Puffenberger,et al.  Homozygosity for a novel splice site mutation in the cardiac myosin‐binding protein C gene causes severe neonatal hypertrophic cardiomyopathy , 2007, American journal of medical genetics. Part A.

[27]  D. Levy,et al.  Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community: The Framingham Heart Study , 2006, Circulation.

[28]  Michael J Ackerman,et al.  Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. , 2006, Mayo Clinic proceedings.

[29]  A. Tajik,et al.  Yield of genetic testing in hypertrophic cardiomyopathy. , 2005, Mayo Clinic proceedings.

[30]  R. Dietz,et al.  Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy , 2005, Journal of Molecular Medicine.

[31]  A. Tajik,et al.  Sarcomeric genotyping in hypertrophic cardiomyopathy. , 2005, Mayo Clinic proceedings.

[32]  N. Alpert,et al.  Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations. , 2005, American journal of physiology. Heart and circulatory physiology.

[33]  A. Tajik,et al.  Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. , 2004, Journal of the American College of Cardiology.

[34]  O. Havndrup,et al.  Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency , 2004, European Journal of Human Genetics.

[35]  P. Toutouzas,et al.  Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene. , 2004, The American journal of cardiology.

[36]  F. Girolami,et al.  Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. , 2003, The American journal of cardiology.

[37]  V. Regitz-Zagrosek,et al.  Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy , 2003, Clinical genetics.

[38]  M. Komajda,et al.  Hypertrophic Cardiomyopathy: Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy , 2003, Circulation.

[39]  J. Erdmann,et al.  Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations: prediction of clinical status--is molecular genetics a new tool for the management of hypertrophic cardiomyopathy in clinical practice? , 2003, Cardiovascular research.

[40]  A. Tajik,et al.  Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. , 2002, Journal of the American College of Cardiology.

[41]  B. Maron Hypertrophic cardiomyopathy: a systematic review. , 2002, JAMA.

[42]  H Niimura,et al.  Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. , 1998, The New England journal of medicine.

[43]  R. Matsuoka,et al.  Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy. , 1995, American journal of medical genetics.

[44]  Christine E. Seidman,et al.  α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere , 1994, Cell.

[45]  W. Zhu,et al.  Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. , 1993, The Journal of clinical investigation.

[46]  L. Fananapazir,et al.  Differences in Clinical Expression of Hypertrophic Cardiomyopathy Associated With Two Distinct Mutations in the β‐Myosin Heavy Chain Gene: A 908Leu→Val Mutation and a 403Arg→gGln Mutation , 1992, Circulation.

[47]  J. Seidman,et al.  Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. , 1992, The New England journal of medicine.

[48]  J. Seidman,et al.  Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. , 1991, The New England journal of medicine.

[49]  B. Gersh,et al.  Genetic basis of hypertrophic cardiomyopathy , 2017 .

[50]  Barry J Maron,et al.  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, Journal of the American College of Cardiology.

[51]  M. Ackerman,et al.  Is Genotype Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy? Mutation Type Is Not Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy Response by Ho on P 2450 Controversies in Cardiovascular Medicine , 2022 .