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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.
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.
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.
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Buttermore ED, Anderson NC, Chen PF, Makhortova NR, Kim KH, Wafa SMA, Dwyer S, Micozzi JM, Winden KD, Zhang B, Han MJ, Kleiman RJ, Brownstein CA, Sahin M, Gonzalez-Heydrich J. Buttermore ED, et al. Among authors: dwyer s. Front Psychiatry. 2022 Nov 3;13:924956. doi: 10.3389/fpsyt.2022.924956. eCollection 2022. Front Psychiatry. 2022. PMID: 36405918 Free PMC article.
Genomic analysis defines distinct pancreatic and neuronal subtypes of lung carcinoid.
Domingo-Sabugo C, Willis-Owen SA, Mandal A, Nastase A, Dwyer S, Brambilla C, Gálvez JH, Zhuang Q, Popat S, Eveleigh R, Munter M, Lim E, Nicholson AG, Lathrop GM, Cookson WO, Moffatt MF. Domingo-Sabugo C, et al. Among authors: dwyer s. J Pathol. 2024 Nov;264(3):332-343. doi: 10.1002/path.6352. Epub 2024 Sep 27. J Pathol. 2024. PMID: 39329437
Squeezing the quantum noise of a gravitational-wave detector below the standard quantum limit.
Jia W, Xu V, Kuns K, Nakano M, Barsotti L, Evans M, Mavalvala N; members of the LIGO Scientific Collaboration†; Abbott R, Abouelfettouh I, Adhikari RX, Ananyeva A, Appert S, Arai K, Aritomi N, Aston SM, Ball M, Ballmer SW, Barker D, Berger BK, Betzwieser J, Bhattacharjee D, Billingsley G, Bode N, Bonilla E, Bossilkov V, Branch A, Brooks AF, Brown DD, Bryant J, Cahillane C, Cao H, Capote E, Chen Y, Clara F, Collins J, Compton CM, Cottingham R, Coyne DC, Crouch R, Csizmazia J, Cullen TJ, Dartez LP, Demos N, Dohmen E, Driggers JC, Dwyer SE, Effler A, Ejlli A, Etzel T, Feicht J, Frey R, Frischhertz W, Fritschel P, Frolov VV, Fulda P, Fyffe M, Ganapathy D, Gateley B, Giaime JA, Giardina KD, Glanzer J, Goetz E, Goodwin-Jones AW, Gras S, Gray C, Griffith D, Grote H, Guidry T, Hall ED, Hanks J, Hanson J, Heintze MC, Helmling-Cornell AF, Huang HY, Inoue Y, James AL, Jennings A, Karat S, Kasprzack M, Kawabe K, Kijbunchoo N, Kissel JS, Kontos A, Kumar R, Landry M, Lantz B, Laxen M, Lee K, Lesovsky M, Llamas F, Lormand M, Loughlin HA, Macas R, MacInnis M, Makarem CN, Mannix B, Mansell GL, Martin RM, Maxwell N, McCarrol G, McCarthy R, McClelland DE, McCormick S, McCuller L, McRae T, Mer… See abstract for full author list ➔ Jia W, et al. Among authors: dwyer se. Science. 2024 Sep 20;385(6715):1318-1321. doi: 10.1126/science.ado8069. Epub 2024 Sep 19. Science. 2024. PMID: 39298573
271 results