Associated Papers
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
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Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Fusco C et al.
Human Mutation, 2019
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G et al.
Human Mutation, 2018
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