Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Clinical Exome Performance for Reporting Secondary Genetic Findings

(2014) J. Y. Park et al.   CLINICAL CHEMISTRY

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations

(2013) A. Vahlquist et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

Genetics and Cardiovascular Disease

(2012) Euan A. Ashley et al.   CIRCULATION

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers

(2012) Ingrid A.W. van Rijsingen et al.   EUROPEAN JOURNAL OF HEART FAILURE

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Challenge in Desmin Cardiomyopathy With Transformation of Clinical Phenotypes

(2012) Alexandra Gudkova et al.   PEDIATRIC CARDIOLOGY

Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper

(2011) Michael H. Gollob et al.   CANADIAN JOURNAL OF CARDIOLOGY

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

(2011) P. Garcia-Pavia et al.   HEART

Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing

(2011) Samuel Myllykangas et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy

(2010) Duanxiang Li et al.   CTS-Clinical and Translational Science

The genetics of dilated cardiomyopathy

(2010) Lisa Dellefave et al.   CURRENT OPINION IN CARDIOLOGY

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

(2010) S. Wordsworth et al.   EUROPEAN HEART JOURNAL

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Multiple Mutations in Genetic Cardiovascular Disease

(2009) Matthew Kelly et al.   Circulation-Cardiovascular Genetics

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH

Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities

(2009) My G. Mahoney et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY