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Author Details

Elizabeth D Buttermore
Boston Children's Hospital
2009
16
8
PMIDPaper TitleJournal TitlePublished Year
36633423A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells.Curr Protoc2023
37398196High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia.Res Sq2023
36156879GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.Mol Ther Methods Clin Dev2022
3640591816p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.Front Psychiatry2022
36264199Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities.Curr Protoc2022
33724192Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.J Med Internet Res2021
33714067Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).Stem Cell Res2021
31915823Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.Hum Mol Genet2020
31591157Biallelic Mutations in <i>TSC2</i> Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons.J Neurosci2019
31525725Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).Stem Cell Res2019
25420066Modeling pain in vitro using nociceptor neurons reprogrammed from fibroblasts.Nat Neurosci2015
23404451Organization and maintenance of molecular domains in myelinated axons.J Neurosci Res2013
22492029Pinceau organization in the cerebellum requires distinct functions of neurofascin in Purkinje and basket neurons during postnatal development.J Neurosci2012
21632923The cytoskeletal adaptor protein band 4.1B is required for the maintenance of paranodal axoglial septate junctions in myelinated axons.J Neurosci2011
21031018Localization of the paranodal protein Caspr in the mammalian retina.Mol Vis2010
19279247The septate junction protein caspr is required for structural support and retention of KCNQ4 at calyceal synapses of vestibular hair cells.J Neurosci2009
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Collaborators

Harvard Medical School
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Co-authored papers 2
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Co-authored papers 2
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Co-authored papers 2
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Co-authored papers 1
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 1
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Co-authored papers 1
University of North Carolina at Chapel Hill
Co-authored papers 1
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Co-authored papers 1
University of Colorado Anschutz Medical Campus
Co-authored papers 1
Co-authored papers 1
Manton Center for Orphan Disease Research, Boston Children's Hospital
Co-authored papers 1
Co-authored papers 1
Boston Children's Hospital
Co-authored papers 1
Boston Children's Hospital
Co-authored papers 1
Boston Children's Hospital
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Boston Children's Hospital
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Boston Children's Hospital
Co-authored papers 1
Scientific Institute, IRCCS Eugenio Medea, Conegliano-Pieve di Soligo Research Centre
Co-authored papers 1
Harvard Medical School
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Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
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Broad Institute of MIT and Harvard
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Boston Children's Hospital, Harvard Medical School
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Institute of Neurology, University College London (UCL)
Co-authored papers 1