Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI et al.
Clinical Genetics, 2023
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
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer EE et al.
Neurology, 2021
Select a paper to view details