Associated Papers
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L et al.
International Journal of Molecular Sciences, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Pennings M et al.
European Journal of Human Genetics : Ejhg, 2023
36781956 (PubMed )
Supplement: 41431_2023_1312_MOESM4_ESM.pdf
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