Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants

(2013) Kevin P. Kenna et al.   HUMAN MUTATION

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

(2013) Matthew B. Harms et al.   NEUROBIOLOGY OF AGING

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

(2012) Jeffrey A. Brown et al.   Amyotrophic Lateral Sclerosis

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne et al.   LANCET NEUROLOGY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

(2012) Min-Jung Kwon et al.   NEUROBIOLOGY OF AGING

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

(2012) S. Lattante et al.   NEUROLOGY

Extensive genetics of ALS: A population-based study in Italy

(2012) A. Chio et al.   NEUROLOGY

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Proposed criteria for familial amyotrophic lateral sclerosis

(2011) Susan Byrne et al.   Amyotrophic Lateral Sclerosis

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease

(2011) Ammar Al-Chalabi et al.   HUMAN HEREDITY

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

(2011) Amelia Conte et al.   NEUROMUSCULAR DISORDERS

Ensembl 2012

(2011) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS 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

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Multiplex Target Enrichment Using DNA Indexing for Ultra-High Throughput SNP Detection

(2010) E. M. Kenny et al.   DNA RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

(2009) M. A. van Es et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2009) Prateek Kumar et al.   Nature Protocols

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

(2009) Janine Kirby et al.   NEUROGENETICS

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

(2009) I. Le Ber et al.   NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Identification of genetic variants using bar-coded multiplexed sequencing

(2008) David W Craig et al.   NATURE METHODS

Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004

(2007) O O'Toole et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY