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Journal of Medical Genetics|January 16, 2020
Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformationsFrançoise Bergametti, Geraldine Viot, Christophe Verny, et al.European Journal of Medical Genetics|August 25, 2018
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variantChloé Angelini, Julien Van Gils, Antoine Bigourdan, et al.The Lancet. Neurology|May 23, 2022
Moyamoya disease: diagnosis and interventionsMasafumi Ihara, Yumi Yamamoto, Yorito Hattori, et al.Neurology|June 27, 2019
Predictors of clinical or cerebral lesion progression in adult moyamoya angiopathyDominique Hervé, Nathanaelle Ibos-Augé, Lionel Calvière, et al.Journal of Molecular Neuroscience : MN|March 8, 2014
PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathyGaël Nicolas, Anne Rovelet-Lecrux, Cyril Pottier, et al.Genetic Epidemiology|September 25, 2024
PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease DiagnosisMarie-Sophie C Ogloblinsky, Ozvan Bocher, Chaker Aloui, et al.Prenatal Diagnosis|February 12, 2022
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhageThibault Coste, Catherine Vincent-Delorme, Morgane Stichelbout, et al.The New England Journal of Medicine|April 7, 2006
Role of COL4A1 in small-vessel disease and hemorrhagic strokeDouglas B Gould, F Campbell Phalan, Saskia E van Mil, et al.Journal of Medical Genetics|March 27, 2017
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathyStéphanie Guey, Lou Grangeon, Francis Brunelle, et al.Clinical Genetics|May 13, 2023
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxiaFlorence Riant, Lydie Burglen, Michaelle Corpechot, et al.Pageof 12