E. Buttermore

发表

Modeling pain in vitro using nociceptor neurons reprogrammed from fibroblasts

Wardiya Afshar Saber, K. Kapur, K. Eggan, 2014, Nature Neuroscience.

The Septate Junction Protein Caspr Is Required for Structural Support and Retention of KCNQ4 at Calyceal Synapses of Vestibular Hair Cells

B. Kachar, Felipe T. Salles, L. Andrade, 2009, The Journal of Neuroscience.

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.

Glennis A. Logsdon, Louis T. Dang, Stormy J. Chamberlain, 2022, American journal of human genetics.

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

N. L. Chamberlin, S. Brewster, Lisa M. Prock, 2022, Molecular therapy. Methods & clinical development.

The Cytoskeletal Adaptor Protein Band 4.1B Is Required for the Maintenance of Paranodal Axoglial Septate Junctions in Myelinated Axons

L. Tessarollo, X. An, M. Bhat, 2011, The Journal of Neuroscience.

Dynamic 3D Combinatorial Generation of hPSC‐Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities

M. Sahin, N. Makhortova, Dosh Whye, 2022, Current protocols.

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

C. Brownstein, N. Makhortova, K. Winden, 2022, Frontiers in Psychiatry.

Organization and maintenance of molecular domains in myelinated axons

M. Bhat, C. Thaxton, E. Buttermore, 2013, Journal of neuroscience research.

Pinceau Organization in the Cerebellum Requires Distinct Functions of Neurofascin in Purkinje and Basket Neurons during Postnatal Development

Michael L. Wallace, C. Hansel, B. Philpot, 2012, The Journal of Neuroscience.

Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

M. Sahin, M. Sundberg, K. Winden, 2019, The Journal of Neuroscience.

A Robust Pipeline for the Multi‐Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells

Wardiya Afshar Saber, M. Sahin, N. Makhortova, 2023, Current protocols.

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

S. Scherer, T. Bourgeron, R. Delorme, 2021, medRxiv.

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

D. Segal, J. Lipton, M. Sahin, 2020, Human molecular genetics.

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

M. Sahin, E. Buttermore, D. Ebrahimi-Fakhari, 2019, Stem cell research.

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

J. Brownstein, M. Haendel, C. Brownstein, 2020, Journal of medical Internet research.

Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).

D. Lavery, L. Swanson, M. Sahin, 2021, Stem cell research.

Cortical neurons obtained from patients-derived GNAO1 iPSCs show altered differentiation and functional properties

Dosh Whye, G. Tartaglia, V. de Turris, 2023, bioRxiv.

High-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

Wardiya Afshar Saber, M. Sahin, Dosh Whye, 2023, Research square.

Localization of the paranodal protein Caspr in the mammalian retina

B. O'Brien, E. Peles, M. Bhat, 2010, Molecular vision.

Rigor and reproducibility in human brain organoid research: Where we are and where we need to go

Dosh Whye, H. Kornblum, Sivan Osenberg, 2024, Stem cell reports.

Combining Off‐flow, a Nextflow‐coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs

J. Howe, B. Thiruvahindrapuram, E. Buttermore, 2023, Computational and structural biotechnology journal.

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

E. Buttermore, J. Roullet, Xutong Shi, 2023, Neurobiology of Disease.

Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties

Dosh Whye, G. Tartaglia, M. Lagarkova, 2023, bioRxiv.