Whole-Exome Sequencing to Identify a Novel LMNA Gene Mutation Associated with Inherited Cardiac Conduction Disease

‘State-of-the-heart’ of cardiac laminopathies

(2013) Marie-Elodie Cattin et al.   CURRENT OPINION IN CARDIOLOGY

Variants of the Lamin A/C (LMNA) Gene in Non-Valvular Atrial Fibrillation Patients

(2012) Michal Saj et al.   Molecular Diagnosis & Therapy

Atomic structure of the vimentin central  -helical domain and its implications for intermediate filament assembly

(2012) A. A. Chernyatina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Cardiac Conduction System

(2011) David S. Park et al.   CIRCULATION

A Complex Double Deletion in LMNA Underlies Progressive Cardiac Conduction Disease, Atrial Arrhythmias, and Sudden Death

(2011) Roos F. Marsman et al.   Circulation-Cardiovascular Genetics

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Stabilization of vimentin coil2 fragment via an engineered disulfide

(2011) A.A. Chernyatina et al.   JOURNAL OF STRUCTURAL BIOLOGY

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment

(2011) Michael Remmert et al.   NATURE METHODS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Computational and statistical approaches to analyzing variants identified by exome sequencing

(2011) Nathan O Stitziel et al.   GENOME BIOLOGY

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

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

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

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Laminopathies in Russian families

(2009) GE Rudenskaya et al.   CLINICAL GENETICS

A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death

(2009) Hubert Pan et al.   HEART RHYTHM

A different conformation for linker L12 in IF molecules in the molecular and filamentous forms: An hypothesis

(2009) David A.D. Parry et al.   JOURNAL OF STRUCTURAL BIOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Emerin and the Nuclear Lamina in Muscle and Cardiac Disease

(2008) James M. Holaska   CIRCULATION RESEARCH