Associated Papers
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D et al.
Journal of Clinical Medicine, 2021
34362006 (PubMed )
Supplement: jcm-10-03222-s001.zip › jcm-1250779-conversion › Table_S2A.pdf
Select a paper to view details