Valerio Conti University of Florence Biography Publications Institution JoVE Articles Valerio Conti has not added a biography. If you are Valerio Conti and would like to personalize this page please email our Author Liaison for assistance. Publications Multimodal Fiber-probe Spectroscopy Allows Detecting Epileptogenic Focal Cortical Dysplasia in Children Journal of Biophotonics. Jun, 2017 | Pubmed ID: 28067998 Germline and Somatic Mutations in the MTOR Gene in Focal Cortical Dysplasia and Epilepsy Neurology. Genetics. Dec, 2016 | Pubmed ID: 27830187 Genetic Basis of Brain Malformations Molecular Syndromology. Sep, 2016 | Pubmed ID: 27781032 PIK3CA-associated Developmental Disorders Exhibit Distinct Classes of Mutations with Variable Expression and Tissue Distribution JCI Insight. 06, 2016 | Pubmed ID: 27631024 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism JAMA Neurology. Jul, 2016 | Pubmed ID: 27159400 Characterisation of Mutations of the Phosphoinositide-3-kinase Regulatory Subunit, PIK3R2, in Perisylvian Polymicrogyria: a Next-generation Sequencing Study The Lancet. Neurology. Dec, 2015 | Pubmed ID: 26520804 A Versatile Clearing Agent for Multi-modal Brain Imaging Scientific Reports. May, 2015 | Pubmed ID: 25950610 Periventricular Heterotopia in 6q Terminal Deletion Syndrome: Role of the C6orf70 Gene Brain : a Journal of Neurology. Nov, 2013 | Pubmed ID: 24056535 Corpus Callosum Agenesis, Severe Mental Retardation, Epilepsy, and Dyskinetic Quadriparesis Due to a Novel Mutation in the Homeodomain of ARX American Journal of Medical Genetics. Part A. Apr, 2011 | Pubmed ID: 21416597 Contractions in the Second PolyA Tract of ARX Are Rare, Non-pathogenic Polymorphisms American Journal of Medical Genetics. Part A. Jan, 2011 | Pubmed ID: 21204226 A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations Valerio Conti*1, Aurelie Carabalona*2,3,15, Emilie Pallesi-Pocachard2,3,4, Richard J. Leventer5,6,7, Fabienne Schaller2,3,8, Elena Parrini1, Agathe A. Deparis2,3, Françoise Watrin2,3, Emmanuelle Buhler2,3,8, Francesca Novara9, Stefano Lise10, Alistair T. Pagnamenta10, Usha Kini11, Jenny C. Taylor10, Orsetta Zuffardi9,12, Alfonso Represa2,3, David Antony Keays13, Renzo Guerrini1,14, Antonio Falace2,3, Carlos Cardoso2,3 1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University JoVE 53570 Neuroscience
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations Valerio Conti*1, Aurelie Carabalona*2,3,15, Emilie Pallesi-Pocachard2,3,4, Richard J. Leventer5,6,7, Fabienne Schaller2,3,8, Elena Parrini1, Agathe A. Deparis2,3, Françoise Watrin2,3, Emmanuelle Buhler2,3,8, Francesca Novara9, Stefano Lise10, Alistair T. Pagnamenta10, Usha Kini11, Jenny C. Taylor10, Orsetta Zuffardi9,12, Alfonso Represa2,3, David Antony Keays13, Renzo Guerrini1,14, Antonio Falace2,3, Carlos Cardoso2,3 1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University JoVE 53570 Neuroscience