Associated Papers
CRISPR/Cas9-mediated editing of MIC13 in human induced pluripotent stem cells: A model for mitochondrial hepato-encephalopathy.
Ramachandran H et al.
Stem Cell Research, 2025
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A et al.
Frontiers in Genetics, 2023
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.
Gödiker J et al.
Journal of Human Genetics, 2018
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