Stefano Lise Wellcome Trust Centre for Human Genetics Biography Publications Institution JoVE Articles Stefano Lise has not added a biography. If you are Stefano Lise and would like to personalize this page please email our Author Liaison for assistance. Publications Making the Most of RNA-seq: Pre-processing Sequencing Data with Opossum for Reliable SNP Variant Detection Wellcome Open Research. Jan, 2017 | Pubmed ID: 28239666 Autosomal Dominant Osteopetrosis Associated with Renal Tubular Acidosis is Due to a CLCN7 Mutation American Journal of Medical Genetics. Part A. Nov, 2016 | Pubmed ID: 27540713 Premalignant SOX2 Overexpression in the Fallopian Tubes of Ovarian Cancer Patients: Discovery and Validation Studies EBioMedicine. Aug, 2016 | Pubmed ID: 27492892 Factors Influencing Success of Clinical Genome Sequencing Across a Broad Spectrum of Disorders Nature Genetics. Jul, 2015 | Pubmed ID: 25985138 Next-generation Sequencing (NGS) As a Diagnostic Tool for Retinal Degeneration Reveals a Much Higher Detection Rate in Early-onset Disease European Journal of Human Genetics : EJHG. Mar, 2013 | Pubmed ID: 22968130 Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development PLoS Genetics. 2012 | Pubmed ID: 23236289 Exome Sequencing Can Detect Pathogenic Mosaic Mutations Present at Low Allele Frequencies Journal of Human Genetics. Jan, 2012 | Pubmed ID: 22129557 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 Neurowissenschaften
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 Neurowissenschaften