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Journal of Neuropathology and Experimental Neurology|April 11, 2017
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 MutationsAnnie Laquerriere, Camille Maillard, Mara Cavallin, et al.
European Journal of Medical Genetics|July 19, 2015
Rare ACTG1 variants in fetal microlissencephalyKarine Poirier, Jelena Martinovic, Annie Laquerrière, et al.
Orphanet Journal of Rare Diseases|June 3, 2014
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndromeMarta Romani, Alessia Micalizzi, Ichraf Kraoua, et al.
Neurogenetics|October 18, 2016
Recurrent KIF2A mutations are responsible for classic lissencephalyMara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 13, 2025
Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approachSilvia Masnada, Valentina De Giorgis, Umberto Carugo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, 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.
Orphanet Journal of Rare Diseases|March 22, 2023
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disordersCostanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, et al.
American Journal of Human Genetics|May 30, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic InvolvementSabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.
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