Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Fusco C et al.
Clinical Genetics, 2021
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
Molecular diagnosis in cerebral cavernous malformations.
Mondejar R et al.
Neurologia (barcelona, Spain), 2017
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler S et al.
Molecular Genetics & Genomic Medicine, 2014
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
Riant F et al.
Neurogenetics, 2013
Identification of two novel mutations and of a novel critical region in the KRIT1 gene.
Guarnieri V et al.
Neurogenetics, 2007
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.
Denier C et al.
Annals of Neurology, 2004
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