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611 results

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Page 1
Molecular cascades and cell-type specific signatures in ASD revealed by single cell genomics.
Wamsley B, Bicks L, Cheng Y, Kawaguchi R, Quintero D, Grundman J, Liu J, Xiao S, Hawken N, Margolis M, Mazariegos S, Geschwind DH. Wamsley B, et al. Among authors: geschwind dh. bioRxiv [Preprint]. 2023 Mar 10:2023.03.10.530869. doi: 10.1101/2023.03.10.530869. bioRxiv. 2023. Update in: Science. 2024 May 24;384(6698):eadh2602. doi: 10.1126/science.adh2602 PMID: 36945369 Free PMC article. Updated. Preprint.
Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain.
Wen C, Margolis M, Dai R, Zhang P, Przytycki PF, Vo DD, Bhattacharya A, Matoba N, Jiao C, Kim M, Tsai E, Hoh C, Aygün N, Walker RL, Chatzinakos C, Clarke D, Pratt H, Consortium P, Peters MA, Gerstein M, Daskalakis NP, Weng Z, Jaffe AE, Kleinman JE, Hyde TM, Weinberger DR, Bray NJ, Sestan N, Geschwind DH, Roeder K, Gusev A, Pasaniuc B, Stein JL, Love MI, Pollard KS, Liu C, Gandal MJ. Wen C, et al. Among authors: geschwind dh. medRxiv [Preprint]. 2023 Mar 6:2023.03.03.23286706. doi: 10.1101/2023.03.03.23286706. medRxiv. 2023. Update in: Science. 2024 May 24;384(6698):eadh0829. doi: 10.1126/science.adh0829 PMID: 36945630 Free PMC article. Updated. Preprint.
Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.
Nazeen S, Wang X, Zielinski D, Lam I, Hallacli E, Xu P, Ethier E, Strom R, Zanella CA, Nithianandam V, Ritter D, Henderson A, Saurat N, Afroz J, Nutter-Upham A, Benyamini H, Copty J, Ravishankar S, Morrow A, Mitchel J, Neavin D, Gupta R, Farbehi N, Grundman J, Myers RH, Scherzer CR, Trojanowski JQ, Van Deerlin VM, Cooper AA, Lee EB, Erlich Y, Lindquist S, Peng J, Geschwind DH, Powell J, Studer L, Feany MB, Sunyaev SR, Khurana V. Nazeen S, et al. Among authors: geschwind dh. bioRxiv [Preprint]. 2024 Mar 7:2024.03.03.583145. doi: 10.1101/2024.03.03.583145. bioRxiv. 2024. PMID: 38496508 Free PMC article. Preprint.
Single-cell genomics and regulatory networks for 388 human brains.
Emani PS, Liu JJ, Clarke D, Jensen M, Warrell J, Gupta C, Meng R, Lee CY, Xu S, Dursun C, Lou S, Chen Y, Chu Z, Galeev T, Hwang A, Li Y, Ni P, Zhou X; PsychENCODE Consortium; Bakken TE, Bendl J, Bicks L, Chatterjee T, Cheng L, Cheng Y, Dai Y, Duan Z, Flaherty M, Fullard JF, Gancz M, Garrido-Martín D, Gaynor-Gillett S, Grundman J, Hawken N, Henry E, Hoffman GE, Huang A, Jiang Y, Jin T, Jorstad NL, Kawaguchi R, Khullar S, Liu J, Liu J, Liu S, Ma S, Margolis M, Mazariegos S, Moore J, Moran JR, Nguyen E, Phalke N, Pjanic M, Pratt H, Quintero D, Rajagopalan AS, Riesenmy TR, Shedd N, Shi M, Spector M, Terwilliger R, Travaglini KJ, Wamsley B, Wang G, Xia Y, Xiao S, Yang AC, Zheng S, Gandal MJ, Lee D, Lein ES, Roussos P, Sestan N, Weng Z, White KP, Won H, Girgenti MJ, Zhang J, Wang D, Geschwind D, Gerstein M. Emani PS, et al. bioRxiv [Preprint]. 2024 Mar 30:2024.03.18.585576. doi: 10.1101/2024.03.18.585576. bioRxiv. 2024. Update in: Science. 2024 May 24;384(6698):eadi5199. doi: 10.1126/science.adi5199 PMID: 38562822 Free PMC article. Updated. Preprint.
Single-cell multi-cohort dissection of the schizophrenia transcriptome.
Ruzicka WB, Mohammadi S, Fullard JF, Davila-Velderrain J, Subburaju S, Tso DR, Hourihan M, Jiang S, Lee HC, Bendl J; PsychENCODE Consortium§; Voloudakis G, Haroutunian V, Hoffman GE, Roussos P, Kellis M; PsychENCODE Consortium. Ruzicka WB, et al. Science. 2024 May 24;384(6698):eadg5136. doi: 10.1126/science.adg5136. Epub 2024 May 24. Science. 2024. PMID: 38781388
Massively parallel characterization of regulatory elements in the developing human cortex.
Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM; PsychENCODE Consortium‡; Pollen AA, Nowakowski TJ, Ahituv N, Pollard KS; PsychENCODE Consortium. Deng C, et al. Science. 2024 May 24;384(6698):eadh0559. doi: 10.1126/science.adh0559. Epub 2024 May 24. Science. 2024. PMID: 38781390
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.
Gandal MJ, Zhang P, Hadjimichael E, Walker RL, Chen C, Liu S, Won H, van Bakel H, Varghese M, Wang Y, Shieh AW, Haney J, Parhami S, Belmont J, Kim M, Moran Losada P, Khan Z, Mleczko J, Xia Y, Dai R, Wang D, Yang YT, Xu M, Fish K, Hof PR, Warrell J, Fitzgerald D, White K, Jaffe AE; PsychENCODE Consortium; Peters MA, Gerstein M, Liu C, Iakoucheva LM, Pinto D, Geschwind DH. Gandal MJ, et al. Among authors: geschwind dh. Science. 2018 Dec 14;362(6420):eaat8127. doi: 10.1126/science.aat8127. Science. 2018. PMID: 30545856 Free PMC article.
Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.
Bertucci T, Bowles KR, Lotz S, Qi L, Stevens K, Goderie SK, Borden S, Oja LM, Lane K, Lotz R, Lotz H, Chowdhury R, Joy S, Arduini BL, Butler DC, Miller M, Baron H, Sandhof CA, Silva MC, Haggarty SJ, Karch CM, Geschwind DH, Goate AM, Temple S. Bertucci T, et al. Among authors: geschwind dh. bioRxiv [Preprint]. 2023 Jul 11:2023.07.11.548571. doi: 10.1101/2023.07.11.548571. bioRxiv. 2023. PMID: 37503195 Free PMC article. Preprint.
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.
Pottier C, Küçükali F, Baker M, Batzler A, Jenkins GD, van Blitterswijk M, Vicente CT, De Coster W, Wynants S, Van de Walle P, Ross OA, Murray ME, Faura J, Haggarty SJ, van Rooij JG, Mol MO, Hsiung GR, Graff C, Öijerstedt L, Neumann M, Asmann Y, McDonnell SK, Baheti S, Josephs KA, Whitwell JL, Bieniek KF, Forsberg L, Heuer H, Lago AL, Geier EG, Yokoyama JS, Oddi AP, Flanagan M, Mao Q, Hodges JR, Kwok JB, Domoto-Reilly K, Synofzik M, Wilke C, Onyike C, Dickerson BC, Evers BM, Dugger BN, Munoz DG, Keith J, Zinman L, Rogaeva E, Suh E, Gefen T, Geula C, Weintraub S, Diehl-Schmid J, Farlow MR, Edbauer D, Woodruff BK, Caselli RJ, Donker Kaat LL, Huey ED, Reiman EM, Mead S, King A, Roeber S, Nana AL, Ertekin-Taner N, Knopman DS, Petersen RC, Petrucelli L, Uitti RJ, Wszolek ZK, Ramos EM, Grinberg LT, Gorno Tempini ML, Rosen HJ, Spina S, Piguet O, Grossman M, Trojanowski JQ, Keene DC, Lee-Way J, Prudlo J, Geschwind DH, Rissman RA, Cruchaga C, Ghetti B, Halliday GM, Beach TG, Serrano GE, Arzberger T, Herms J, Boxer AL, Honig LS, Vonsattel JP, Lopez OL, Kofler J, White CL, Gearing M, Glass J, Rohrer JD, Irwin DJ, Lee EB, Van Deerlin V, Castellani R, Mesulam MM, Tartaglia MC, Finger EC… See abstract for full author list ➔ Pottier C, et al. Among authors: geschwind dh. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309088. doi: 10.1101/2024.06.24.24309088. medRxiv. 2024. PMID: 38978643 Free PMC article. Preprint.
611 results