Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers
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L. Franke | R. D. de Boer | Patrick Deelen | J. Jongbloed | I. Nolte | P. A. van der Zwaag | S. Li | C. Wijmenga | E. Lopera-Maya | M. Swertz | S. Sanna | H. Snieder | R. de Brouwer | J. van Breen | The Netherlands ACM Registry | Lifelines Cohort Study | E. A. Lopera-Maya
[1] C. Bezzina,et al. When genetic burden reaches threshold , 2020, European heart journal.
[2] Shing Wan Choi,et al. The power of pathway-based polygenic risk scores , 2021 .
[3] W. Shimizu,et al. Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers , 2017, Circulation. Cardiovascular genetics.
[4] T. Spector,et al. Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies , 2009, PloS one.
[5] Terry M. Therneau,et al. Mixed Effects Cox Models , 2015 .
[6] Gaël Varoquaux,et al. Scikit-learn: Machine Learning in Python , 2011, J. Mach. Learn. Res..
[7] M. Farrall,et al. Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity , 2021, Nature Genetics.
[8] A. Zhernakova,et al. Lack of Association Between Genetic Variants at ACE2 and TMPRSS2 Genes Involved in SARS-CoV-2 Infection and Human Quantitative Phenotypes , 2020, Frontiers in Genetics.
[9] A. Teumer,et al. The genetic makeup of the electrocardiogram , 2019, bioRxiv.
[10] Xavier Robin,et al. pROC: an open-source package for R and S+ to analyze and compare ROC curves , 2011, BMC Bioinformatics.
[11] M. Rieder,et al. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. , 2012, American journal of human genetics.
[12] M. Kanai,et al. Global biobank analyses provide lessons for computing polygenic risk scores across diverse cohorts , 2021, medRxiv.
[13] J. Hirschhorn,et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease , 2008, Proceedings of the National Academy of Sciences.
[14] D. Judge,et al. Epidemiology of the inherited cardiomyopathies , 2020, Nature Reviews Cardiology.
[15] G. MacGowan,et al. Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy , 2020, BMC Cardiovascular Disorders.
[16] A. Zwinderman,et al. Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction , 2021, European heart journal.
[17] E. Dermitzakis,et al. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 , 2010, Nature Genetics.
[18] T. Akgun,et al. Variations of QRS Morphology in Patients with Dilated Cardiomyopathy; Clinical and Prognostic Implications , 2014, Journal of cardiovascular and thoracic research.
[19] P. Elliott,et al. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect , 2020, Nature Genetics.
[20] Hae Kyung Im,et al. Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues , 2016, bioRxiv.
[21] Josyf Mychaleckyj,et al. Robust relationship inference in genome-wide association studies , 2010, Bioinform..
[22] R. Hauer,et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy , 2012, European journal of heart failure.
[23] G. Dorn,et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[24] H. Bundgaard,et al. Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure , 2021, Journal of Medical Genetics.
[25] P. Munroe,et al. Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization , 2021, Circulation. Genomic and precision medicine.
[26] Gonçalo R. Abecasis,et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia , 2008, Proceedings of the National Academy of Sciences.
[27] Seunggeun Lee,et al. UK-Biobank Whole Exome Sequence Binary Phenome Analysis with Robust Region-based Rare Variant Test , 2019, bioRxiv.
[28] Xihong Lin,et al. Rare-variant association testing for sequencing data with the sequence kernel association test. , 2011, American journal of human genetics.
[29] D. Panagiotakos,et al. Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy. , 2016, 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.
[30] A. Lai,et al. Could personalised risk prediction for type 2 diabetes using polygenic risk scores direct prevention, enhance diagnostics, or improve treatment? , 2020 .
[31] Skipper Seabold,et al. Statsmodels: Econometric and Statistical Modeling with Python , 2010, SciPy.
[32] B. de Jonge,et al. Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model for Phospholamban R14del cardiomyopathy , 2020, bioRxiv.
[33] Jingyuan Fu,et al. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction , 2010, Nature Genetics.
[34] Eloisa Arbustini,et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. , 2007, European heart journal.
[35] P. Thompson,et al. The athlete's heart. , 1997, Clinics in sports medicine.
[36] Ross M. Fraser,et al. A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness , 2014, PLoS genetics.
[37] Mary Goldman,et al. Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics , 2016, Nature Communications.
[38] A. V. van Roon,et al. Determinants of heart rate variability in the general population: The Lifelines Cohort Study. , 2018, Heart rhythm.
[39] C. Wijmenga,et al. Cohort Profile Cohort Profile : LifeLines , a three-generation cohort study and biobank , 2015 .
[40] E. Kranias,et al. Calcium: Phospholamban: a crucial regulator of cardiac contractility , 2003, Nature Reviews Molecular Cell Biology.
[41] Yang Ni,et al. Polygenic prediction via Bayesian regression and continuous shrinkage priors , 2018, Nature Communications.
[42] Paolo Ajmone-Marsan,et al. GHap: an R package for genome-wide haplotyping , 2016, Bioinform..
[43] Jamie I. Vandenberg,et al. Heritability of ECG Biomarkers in the Netherlands Twin Registry Measured from Holter ECGs , 2016, Front. Physiol..
[44] Joao A. C. Lima,et al. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy , 2020, Nature Communications.
[45] Xihong Lin,et al. Operating characteristics of the rank‐based inverse normal transformation for quantitative trait analysis in genome‐wide association studies , 2019, Biometrics.
[46] Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits , 2019, European Journal of Human Genetics.
[47] R. Hauer,et al. The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update , 2019, Netherlands Heart Journal.
[48] Christian Gieger,et al. Genome-wide association analysis identifies multiple loci related to resting heart rate. , 2010, Human molecular genetics.
[49] Kathleen F. Kerr,et al. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity , 2018, Nature Communications.
[50] Christopher. Simons,et al. Machine learning with Python , 2017 .
[51] Michael A. Burke,et al. Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies , 2016, Scientific Reports.
[52] J. Mogensen,et al. Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives , 2020, Circulation. Heart failure.
[53] Kaanan P. Shah,et al. A gene-based association method for mapping traits using reference transcriptome data , 2015, Nature Genetics.
[54] D. Ledbetter,et al. Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders , 2019, Nature Communications.
[55] J. G. Post,et al. Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy , 2013, Netherlands Heart Journal.
[56] K. Swedberg,et al. Clinical implications of QRS duration in patients hospitalized with worsening heart failure and reduced left ventricular ejection fraction. , 2008, JAMA.