Saeid Amiri

This study characterizes the genetic and clinical features of hereditary spastic paraplegia (HSP) in a Canadian cohort, identifying common genetic causes and phenotypic variability.

The paper examines how genetic variants in GALC affect the ratio of glucocerebrosidase to galactosylceramidase activity and its association with Parkinson's disease risk.

Ensemblex improves accuracy in genetic demultiplexing of pooled scRNA-seq samples by combining four algorithms with accuracy weighting.

Segpy is a user-friendly pipeline for variant segregation analysis that supports single-family, multi-family, and population-based datasets to evaluate genetic variant co-segregation with disease.

scRNAbox provides an HPC-friendly scRNA-seq analysis pipeline with quality control, integration, clustering, annotation, and differential expression analysis.

MTSviewer integrates tools to visualize mitochondrial targeting sequences, cleavage sites, mutations, and structural data for human and yeast mitochondrial proteomes.