Simon D. Topp

CRISPR/Cas9-mediated generation of a de novo C9ORF72 knock-in isogenic iPSC cell bank to model ALS and FTD

The paper generates isogenic iPSC lines with a C9ORF72 G4C2 repeat expansion to model ALS and FTD, showing both loss- and gain-of-function pathologies.

Systematic comparative benchmarking of computational methods for the detection of transposable elements in long-read sequencing data

This study benchmarks TE detection tools on long-read data, showing significant variation in performance and highlighting tool-specific strengths and limitations.

Identification of co-segregating RUBCN and KANK1 mutations in a UK amyotrophic lateral sclerosis kindred

The paper identifies co-segregating RUBCN and KANK1 mutations in a UK ALS family, showing their association with disease and functional impact on cellular processes.

Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis

The paper identifies sex-associated DNA methylation differences in ALS using a large-scale epigenome-wide association study and links them to survival outcomes.

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

This study identifies genetic loci associated with impulsivity in juvenile myoclonic epilepsy and links them to synaptic assembly genes and SLCO5A1 function.

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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.

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA NGS data of ALS patients

ALSgeneScanner is a tool that provides automated, detailed reports on ALS-related gene variants from whole genome or exome sequencing data, aiding non-specialists in interpretation.