Associated Papers
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.
Sikta N et al.
Human Molecular Genetics, 2025
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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