Associated Papers
Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.
Villacis RAR et al.
International Journal of Molecular Sciences, 2024
39408606 (PubMed )
Supplement: ijms-25-10275-s001.zip › Supplementary_Tables_-_Revised.xlsx › Table_S2
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Mitochondrial biology and dysfunction in secondary mitochondrial disease.
Baker MJ et al.
Open Biology, 2022
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
Cryo-EM structure of the human mitochondrial translocase TIM22 complex.
Qi L et al.
Cell Research, 2021
Defining the architecture of the human TIM22 complex by chemical crosslinking.
Valpadashi A et al.
Febs Letters, 2021
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.
Pacheu-Grau D et al.
Human Molecular Genetics, 2018
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