Michael G Benatar

This study compares five NfL immunoassays in plasma and CSF, finding four with excellent performance and noting assay-specific biases and correlations.

The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.

This study removes a hexanucleotide repeat expansion in C9ORF72 using CRISPR/Cas9 in cell and animal models, reducing disease hallmarks.

The paper applies a bioinformatic pipeline to RNA-seq data from ALS patients and controls to identify novel virus-like sequences.

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.

PeCanPIE is a cloud-based platform for annotating and classifying germline variants in pediatric cancer, using ACMG guidelines to rank and classify variants from VCF files.