A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

(2018) Jeffrey Staples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A simulation study investigating power estimates in phenome-wide association studies

(2018) Anurag Verma et al.   BMC BIOINFORMATICS

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation

(2017) Nina Eide Hasselberg et al.   EUROPEAN HEART JOURNAL

Should Identifying a Titin Truncating Variant Change the Management of Patients With Dilated Cardiomyopathy? ∗

(2017) Christopher Newton-Cheh   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

(2017) Frederick E. Dewey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Testing in Pediatric Cardiomyopathy

(2017) Chalani D. Ellepola et al.   PEDIATRIC CARDIOLOGY

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

(2016) David J. Carey et al.   GENETICS IN MEDICINE

Modulation of LMNA splicing as a strategy to treat prelamin A diseases

(2016) John M. Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)

(2015) Christopher Douville et al.   HUMAN MUTATION

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

(2014) Robert J. Carroll et al.   BIOINFORMATICS

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

(2014) Holly A. Stessman et al.   CELL

Causality in Genetics

(2014) Ali J. Marian   CIRCULATION RESEARCH

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

(2013) Hannah Carter et al.   BMC GENOMICS

Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders

(2013) Frédéric Anselme et al.   HEART RHYTHM

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

Cosegregation of Focal Segmental Glomerulosclerosis in a Family with Familial Partial Lipodystrophy due to a Mutation in LMNA

(2013) Kah Mean Thong et al.   NEPHRON CLINICAL PRACTICE

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” era

(2009) Heather C Mefford   GENETICS IN MEDICINE

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols