Associated Papers
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs.
Scimone C et al.
American Journal of Physiology. Cell Physiology, 2022
Variations in Nomenclature of Clinical Variants between Annotation Tools.
Park KJ et al.
Laboratory Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.
Battistini S et al.
Human Mutation, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.
Labowsky MT et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
Scimone C et al.
Journal of Molecular Neuroscience : Mn, 2017
Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.
Zhou M et al.
Gene, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
Haghighi A et al.
Journal of the Neurological Sciences, 2013
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.
D'Angelo R et al.
Brain Pathology (zurich, Switzerland), 2011
Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.
Verlaan DJ et al.
American Journal of Human Genetics, 2002
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