Publications by authors named "Elizabeth D Buttermore"

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Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.
Maria Sundberg, Carole Shum, Erika M Norabuena, Nina R Makhortova, Cidi Chen, Elizabeth D Buttermore

Neurobiol Dis· November 2025

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Correction of sodium channel mutations in sensory neurons reverses aberrant properties.
Jaehoon Shim, Brian Tanaka, Daniel G Taub, Malgorzata A Mis, Betsy R Schulman, Elizabeth D Buttermore

Brain· October 2025

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Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons.
Madison R Glass, Dosh Whye, Nickesha C Anderson, Delaney Wood, Nina R Makhortova, Elizabeth D Buttermore

Neurobiol Dis· October 2025

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Validation of human sensory neurons derived from inducible pluripotent stem cells as a model for latent infection and reactivation by herpes simplex virus 1.
Hyung Suk Oh, Shu-Fan Chou, Priya Raja, Jaehoon Shim, Biswajit Das, Elizabeth D Buttermore

mBio· September 2025

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An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons.
Wardiya Afshar-Saber, Federico M Gasparoli, Ziqin Yang, Nicole A Teaney, Lahin Lalani, Elizabeth D Buttermore

bioRxiv· July 2025

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mTORC1-selective inhibitors rescue cellular phenotypes in TSC iPSC-derived neurons.
Elizabeth D Buttermore, Gayathri Rajaram Srinivasan, Hellen Jumo, Amanda C Swanson, Benjamin O'Kelly

Front Neurosci· July 2025

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Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders.
Ziqin Yang, Nicole A Teaney, Elizabeth D Buttermore, Mustafa Sahin, Wardiya Afshar-Saber

Front Neurosci· January 2025

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Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.
Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Elizabeth D Buttermore

Comput Struct Biotechnol J· December 2024

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Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons.
Madison R Glass, Dosh Whye, Nickesha C Anderson, Delaney Wood, Nina R Makhortova, Elizabeth D Buttermore

bioRxiv· November 2024

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A Hybrid 2D-to-3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs.
Dosh Whye, Erika M Norabuena, Gayathri Rajaram Srinivasan, Delaney Wood, Taryn J Polanco, Elizabeth D Buttermore

Curr Protoc· October 2024

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Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls.
Wardiya Afshar-Saber, Cidi Chen, Nicole A Teaney, Kristina Kim, Ziqin Yang, Elizabeth D Buttermore

Stem Cell Res· June 2024

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Rigor and reproducibility in human brain organoid research: Where we are and where we need to go.
Soraya O Sandoval, Gerarda Cappuccio, Karina Kruth, Sivan Osenberg, Saleh M Khalil, Elizabeth D Buttermore

Stem Cell Reports· June 2024

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Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties.
Maria Cristina Benedetti, Tiziano D'andrea, Alessio Colantoni, Denis Silachev, Valeria de Turris, Elizabeth D Buttermore

Heliyon· March 2024

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ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Wardiya Afshar-Saber, Nicole A Teaney, Kellen D Winden, Hellen Jumo, Xutong Shi, Elizabeth D Buttermore

Neurobiol Dis· January 2024

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High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Elizabeth D Buttermore

Nat Commun· January 2024

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A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells.
Dosh Whye, Delaney Wood, Wardiya Afshar Saber, Erika M Norabuena, Nina R Makhortova, Elizabeth D Buttermore

Curr Protoc· January 2023

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GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Maya Chopra, Meera E Modi, Kira A Dies, Nancy L Chamberlin, Elizabeth D Buttermore

Mol Ther Methods Clin Dev· December 2022

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16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Elizabeth D Buttermore, Nickesha C Anderson, Pin-Fang Chen, Nina R Makhortova, Kristina H Kim

Front Psychiatry· November 2022

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Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities.
Dosh Whye, Delaney Wood, Kristina H Kim, Cidi Chen, Nina Makhortova, Elizabeth D Buttermore

Curr Protoc· October 2022

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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Livia O Loureiro, Jennifer L Howe, Miriam S Reuter, Alana Iaboni, Kristina Calli, Elizabeth D Buttermore

NPJ Genom Med· November 2021

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Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
Pin-Fang Chen, Teresa Chen, Taylor E Forman, Amanda C Swanson, Benjamin O'Kelly, Elizabeth D Buttermore

Stem Cell Res· May 2021

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Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Elizabeth D Buttermore

J Med Internet Res· March 2021

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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Robert Behne, Julian Teinert, Miriam Wimmer, Angelica D'Amore, Alexandra K Davies, Elizabeth D Buttermore

Hum Mol Genet· January 2020

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Biallelic Mutations in Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons.
Kellen D Winden, Maria Sundberg, Cindy Yang, Syed M A Wafa, Sean Dwyer, Elizabeth D Buttermore

J Neurosci· November 2019

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Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Elizabeth D Buttermore

Stem Cell Res· October 2019

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