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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.
Brain : a Journal of Neurology|June 12, 2015
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel diseaseEdgard Verdura, Dominique Hervé, Eva Scharrer, et al.
European Journal of Medical Genetics|October 14, 2018
Further refinement of COL4A1 and COL4A2 related cortical malformationsMara Cavallin, Manuele Mine, Marion Philbert, et al.
Annals of Neurology|September 27, 2016
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathyEdgard Verdura, Dominique Hervé, Françoise Bergametti, et al.
Human Mutation|September 2, 2022
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizersEva Tosco-Herrera, Adrián Muñoz-Barrera, David Jáspez, et al.
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