ArticleMolecular genetics & genomic medicine2017
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.BMJ open · 2026Article
- Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.Nature genetics · 2026Article
- Whole-genome bisulfite sequencing of cell-free DNA unveils age-dependent and ALS-associated methylation alterations.Cell & bioscience · 2025Article
- An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Adenosine deaminase, not immune to a mechanistic rethink in central nervous system disorders?Histology and histopathology · 2022Review
- SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.Journal of neurology · 2020Article
- Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosis.Journal of neurology, neurosurgery, and psychiatry · 2019Article
- Biomarkers in Motor Neuron Disease: A State of the Art Review.Frontiers in neurology · 2019Review
- Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.Frontiers in genetics · 2019Article
- Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.Genome medicine · 2017Article
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Authors and funding
23 authors.
Funding
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Abstract
backgroundGene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants.
methodsWe use whole exome sequencing (WES) to develop a clinically relevant approach to identify a subset of ALS patients harboring likely pathogenic mutations. In parallel, we assess if DNA methylation can be used to screen for pathogenicity of novel variants since a methylation signature has been shown to associate with the pathogenic
resultsPublished ALS variants were identified in >10% of patients; however, in only 3% of patients (4/120) could these be confidently considered pathogenic (in
conclusionsThe use of WES in a typical ALS clinic demonstrates a critical approach to variant assessment with the capability to combine cohorts to enhance the largely unknown genetic basis of ALS.
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