Genetic variability in sporadic amyotrophic lateral sclerosis

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

(2021) Matthieu Moisse et al.   ANNALS OF NEUROLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines

(2020) Serena Lattante et al.   Genes

The 2021 version of the gene table of neuromuscular disorders (nuclear genome)

(2020) Louise Benarroch et al.   NEUROMUSCULAR DISORDERS

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

trackViewer: a Bioconductor package for interactive and integrative visualization of multi-omics data

(2019) Jianhong Ou et al.   NATURE METHODS

Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts

(2019) Sarah L. Gardiner et al.   JAMA Neurology

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensive analysis of the mutation spectrum in 301 German ALS families

(2018) Kathrin Müller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

CharGer: clinical Characterization of Germline variants

(2018) Adam D Scott et al.   BIOINFORMATICS

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Amyotrophic lateral sclerosis

(2017) Orla Hardiman et al.   Nature Reviews Disease Primers

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

(2016) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Huntington disease reduced penetrance alleles occur at high frequency in the general population

(2016) Chris Kay et al.   NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

Dissection of genetic factors associated with amyotrophic lateral sclerosis

(2014) Claire S. Leblond et al.   EXPERIMENTAL NEUROLOGY

Amyotrophic Lateral Sclerosis Genetic Studies

(2014) Ji He et al.   NEUROSCIENTIST

Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis

(2014) Julien Couthouis et al.   PLoS Genetics

Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   ANNALS OF NEUROLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study

(2013) Sarah Debray et al.   NEUROBIOLOGY OF AGING

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

Proposed criteria for familial amyotrophic lateral sclerosis

(2011) Susan Byrne et al.   Amyotrophic Lateral Sclerosis

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS