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16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Front Psychiatry. 2022 Nov 3;13:924956. doi: 10.3389/fpsyt.2022.924956. eCollection 2022.
Front Psychiatry. 2022.
PMID: 36405918
Free PMC article.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Teinert J, Behne R, D'Amore A, Wimmer M, Dwyer S, Chen T, Buttermore ED, Chen IP, Sahin M, Ebrahimi-Fakhari D.
Teinert J, et al. Among authors: dwyer s.
Stem Cell Res. 2019 Oct;40:101575. doi: 10.1016/j.scr.2019.101575. Epub 2019 Sep 11.
Stem Cell Res. 2019.
PMID: 31525725
Free PMC article.
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A quantitative single-cell assay for retrograde membrane traffic enables rapid detection of defects in cellular organization.
Luong P, Li Q, Chen PF, Wrighton PJ, Chang D, Dwyer S, Bayer MT, Snapper SB, Hansen SH, Thiagarajah JR, Goessling W, Lencer WI.
Luong P, et al. Among authors: dwyer s.
Mol Biol Cell. 2020 Mar 19;31(7):511-519. doi: 10.1091/mbc.E19-07-0375. Epub 2019 Nov 27.
Mol Biol Cell. 2020.
PMID: 31774722
Free PMC article.
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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).
Chen PF, Chen T, Forman TE, Swanson AC, O'Kelly B, Dwyer SA, Buttermore ED, Kleiman R, Js Carrington S, Lavery DJ, Swanson LC, Olson HE, Sahin M.
Chen PF, et al. Among authors: dwyer sa.
Stem Cell Res. 2021 May;53:102276. doi: 10.1016/j.scr.2021.102276. Epub 2021 Mar 5.
Stem Cell Res. 2021.
PMID: 33714067
Free PMC article.
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Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons.
Winden KD, Sundberg M, Yang C, Wafa SMA, Dwyer S, Chen PF, Buttermore ED, Sahin M.
Winden KD, et al. Among authors: dwyer s.
J Neurosci. 2019 Nov 20;39(47):9294-9305. doi: 10.1523/JNEUROSCI.0642-19.2019. Epub 2019 Oct 7.
J Neurosci. 2019.
PMID: 31591157
Free PMC article.
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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Behne R, Teinert J, Wimmer M, D'Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D.
Behne R, et al. Among authors: dwyer s.
Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310.
Hum Mol Genet. 2020.
PMID: 31915823
Free PMC article.
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