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234 results

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Page 1
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.
Gracia-Diaz C, Perdomo JE, Khan ME, Disanza B, Cajka GG, Lei S, Gagne A, Maguire JA, Roule T, Shalem O, Bhoj EJ, Ahrens-Nicklas RC, French D, Goldberg EM, Wang K, Glessner J, Akizu N. Gracia-Diaz C, et al. Among authors: goldberg em. bioRxiv [Preprint]. 2023 Jun 26:2023.06.26.546614. doi: 10.1101/2023.06.26.546614. bioRxiv. 2023. Update in: Cell Stem Cell. 2024 Mar 7;31(3):288-289. doi: 10.1016/j.stem.2024.02.007 PMID: 37425875 Free PMC article. Updated. Preprint.
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.
Gracia-Diaz C, Perdomo JE, Khan ME, Roule T, Disanza BL, Cajka GG, Lei S, Gagne AL, Maguire JA, Shalem O, Bhoj EJ, Ahrens-Nicklas RC, French DL, Goldberg EM, Wang K, Glessner JT, Akizu N. Gracia-Diaz C, et al. Among authors: goldberg em. Cell Stem Cell. 2024 Mar 7;31(3):288-289. doi: 10.1016/j.stem.2024.02.007. Cell Stem Cell. 2024. PMID: 38458176 No abstract available.
Electroconvulsive therapy generates a hidden wave after seizure.
Rosenthal ZP, Majeski JB, Somarowthu A, Quinn DK, Lindquist BE, Putt ME, Karaj A, Favilla CG, Baker WB, Hosseini G, Rodriguez JP, Cristancho MA, Sheline YI, Shuttleworth CW, Abbott CC, Yodh AG, Goldberg EM. Rosenthal ZP, et al. Among authors: goldberg em. bioRxiv [Preprint]. 2024 Nov 1:2024.10.31.621357. doi: 10.1101/2024.10.31.621357. bioRxiv. 2024. PMID: 39554135 Free PMC article. Preprint.
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Clatot J, Thompson CH, Sotardi S, Jiang J, Trivisano M, Balestrini S, Ward DI, Ginn N, Guaragni B, Malerba L, Vakrinou A, Sherer M, Helbig I, Somarowthu A, Sisodiya SM, Ben-Shalom R, Guerrini R, Specchio N, George AL Jr, Goldberg EM. Clatot J, et al. Among authors: goldberg em. Epilepsia. 2024 Dec 21. doi: 10.1111/epi.18234. Online ahead of print. Epilepsia. 2024. PMID: 39707911
Machine-based learning still has a lot to learn.
Goldberg EM. Goldberg EM. Gastrointest Endosc. 2025 Jan;101(1):139-140. doi: 10.1016/j.gie.2024.09.036. Gastrointest Endosc. 2025. PMID: 39701617 No abstract available.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: goldberg em. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
234 results