Noriko Ichino

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

This study validates variants of uncertain significance in ECHS1 using functional assays and multi-omics analysis, identifying new pathogenic variants and cases of mitochondrial disease.

A Genetic Model Therapy Proposes a Critical Role for Liver Dysfunction in Mitochondrial Biology and Disease

This paper presents a zebrafish model of Leigh Syndrome, demonstrating liver dysfunction's critical role in mitochondrial disease through genetic rescue.

A primer genetic toolkit for exploring mitochondrial biology and disease using zebrafish

The paper presents a collection of zebrafish genetic mutants for studying mitochondrial biology and disease.

The Vertebrate Codex Gene Breaking Protein Trap Library For Genomic Discovery and Disease Modeling Applications

The paper describes a zebrafish gene break transposon library for genomic discovery and disease modeling, identifying novel gene expression patterns and generating models for human disease loci.