Sophie Saunier Imagine Institute, INSERM UMR 1163 Université de Paris Biography Publications Institution JoVE Articles Sophie Saunier has not added a biography. If you are Sophie Saunier and would like to personalize this page please email our Author Liaison for assistance. Publications Targeted Next-generation Sequencing in a Large Series of Fetuses with Severe Renal Diseases Human Mutation. Mar, 2022 | Pubmed ID: 35005812 Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis Frontiers in Cell and Developmental Biology. 2021 | Pubmed ID: 34055783 Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis Studies in Health Technology and Informatics. May, 2021 | Pubmed ID: 34042646 Cystic Kidney Diseases Associated with Mutations in Phosphomannomutase 2 Promotor: a Large Spectrum of Phenotypes Pediatric Nephrology (Berlin, Germany). 08, 2021 | Pubmed ID: 33580824 Bi-allelic Pathogenic Variations in DNAJB11 Cause Ivemark II Syndrome, a Renal-hepatic-pancreatic Dysplasia Kidney International. 02, 2021 | Pubmed ID: 33129895 Novel Nephronophthisis-associated Variants Reveal Functional Importance of MAPKBP1 Dimerization for Centriolar Recruitment Kidney International. 10, 2020 | Pubmed ID: 32505465 Diagnosis Support Systems for Rare Diseases: a Scoping Review Orphanet Journal of Rare Diseases. 04, 2020 | Pubmed ID: 32299466 Mouse Genetics Reveals Barttin As a Genetic Modifier of Joubert Syndrome Proceedings of the National Academy of Sciences of the United States of America. 01, 2020 | Pubmed ID: 31879347 Fifteen Years of Research on Oral-facial-digital Syndromes: from 1 to 16 Causal Genes Journal of Medical Genetics. 06, 2017 | Pubmed ID: 28289185 Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis American Journal of Human Genetics. 02, 2017 | Pubmed ID: 28089251 Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability American Journal of Human Genetics. Jun, 2014 | Pubmed ID: 24882706 2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development Lucile Boutaud*1, Marie Michael*1, Céline Banal2, Damelys Calderon1, Sarah Farcy1, Julie Pernelle1, Nicolas Goudin3, Camille Maillard1, Clémantine Dimartino1, Cécile Deleschaux1, Sébastien Dupichaud4, Corinne Lebreton1, Sophie Saunier1, Tania Attié-Bitach1,5, Nadia Bahi-Buisson1,6, Nathalie Lefort2, Sophie Thomas1 1Imagine Institute, INSERM UMR 1163, Université de Paris, 2Imagine Institute, iPSC Core Facility, INSERM UMR U1163, Université de Paris, 3Necker Bio-image Analysis platform of the SFR Necker, 4Imagine Institute, Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, INSERM UMR U1163, Université de Paris, 5Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 6Pediatric Neurology, APHP- Necker Enfants Malades Hospital JoVE 62667 Developmental Biology
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development Lucile Boutaud*1, Marie Michael*1, Céline Banal2, Damelys Calderon1, Sarah Farcy1, Julie Pernelle1, Nicolas Goudin3, Camille Maillard1, Clémantine Dimartino1, Cécile Deleschaux1, Sébastien Dupichaud4, Corinne Lebreton1, Sophie Saunier1, Tania Attié-Bitach1,5, Nadia Bahi-Buisson1,6, Nathalie Lefort2, Sophie Thomas1 1Imagine Institute, INSERM UMR 1163, Université de Paris, 2Imagine Institute, iPSC Core Facility, INSERM UMR U1163, Université de Paris, 3Necker Bio-image Analysis platform of the SFR Necker, 4Imagine Institute, Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, INSERM UMR U1163, Université de Paris, 5Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 6Pediatric Neurology, APHP- Necker Enfants Malades Hospital JoVE 62667 Developmental Biology