New approaches to establish genetic causality.

Determining pathogenicity in cardiac genetic testing: Filling in the blank spaces. Trends Cardiovasc Med (2015) 0.76

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell (2006) 120.51

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

Induced pluripotent stem cell lines derived from human somatic cells. Science (2007) 71.50

SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26

Next-generation DNA sequencing. Nat Biotechnol (2008) 34.95

Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73

Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12

Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29

Accounting for human polymorphisms predicted to affect protein function. Genome Res (2002) 14.10

A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25

Patient-specific induced pluripotent stem-cell models for long-QT syndrome. N Engl J Med (2010) 9.19

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med (2008) 9.13

Guidelines for investigating causality of sequence variants in human disease. Nature (2014) 7.30

Modelling the long QT syndrome with induced pluripotent stem cells. Nature (2011) 5.68

Clan genomics and the complex architecture of human disease. Cell (2011) 4.53

The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature (2010) 4.38

Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06

Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat (2011) 4.01

Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Sci Transl Med (2012) 3.53

Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet (2014) 2.89

Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66

Loss-of-function variants in the genomes of healthy humans. Hum Mol Genet (2010) 2.45

Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells. Cardiovasc Res (2014) 2.25

Communicating new knowledge on previously reported genetic variants. Genet Med (2012) 2.02

Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet (2012) 2.00

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am J Hum Genet (2012) 1.89

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72

High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet (2012) 1.58

PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PLoS Comput Biol (2014) 1.52

Genome-wide association studies: progress and potential for drug discovery and development. Nat Rev Drug Discov (2008) 1.45

VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. Genet Epidemiol (2013) 1.42

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am J Hum Genet (2014) 1.35

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet (2013) 1.30

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet (2011) 1.25

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome. EMBO J (2013) 1.24

Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells. Circ Cardiovasc Genet (2013) 1.11

Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Circ Cardiovasc Genet (2012) 1.10

Genome editing of isogenic human induced pluripotent stem cells recapitulates long QT phenotype for drug testing. J Am Coll Cardiol (2014) 1.08

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet (2013) 1.08

Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. Dis Model Mech (2011) 1.03

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genet Med (2013) 1.00

Evolutionary balancing is critical for correctly forecasting disease-associated amino acid variants. Mol Biol Evol (2013) 0.99

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun (2014) 0.92

Genome sequencing. Return of unexpected DNA results urged. Science (2013) 0.87

An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res (2013) 0.81

Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations. Int J Mol Epidemiol Genet (2013) 0.77