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Page 1
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Fu JM, et al. Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982160 Free PMC article.
Evaluation of gliovascular functions of AQP4 readthrough isoforms.
Mueller SM, McFarland White K, Fass SB, Chen S, Shi Z, Ge X, Engelbach JA, Gaines SH, Bice AR, Vasek MJ, Garbow JR, Culver JP, Martinez-Lozada Z, Cohen-Salmon M, Dougherty JD, Sapkota D. Mueller SM, et al. Front Cell Neurosci. 2023 Nov 23;17:1272391. doi: 10.3389/fncel.2023.1272391. eCollection 2023. Front Cell Neurosci. 2023. PMID: 38077948 Free PMC article.
A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of non-coding elements in vivo.
Lagunas T Jr, Plassmeyer SP, Fischer AD, Friedman RZ, Rieger MA, Selmanovic D, Sarafinovska S, Sol YK, Kasper MJ, Fass SB, Aguilar Lucero AF, An JY, Sanders SJ, Cohen BA, Dougherty JD. Lagunas T Jr, et al. Commun Biol. 2023 Nov 13;6(1):1151. doi: 10.1038/s42003-023-05483-w. Commun Biol. 2023. PMID: 37953348 Free PMC article.
Gene dosage effects of poly(A) track-engineered hypomorphs.
Powell G, Pavlovic Djuranovic S, Djuranovic S. Powell G, et al. Mol Ther Nucleic Acids. 2021 Oct 8;26:865-878. doi: 10.1016/j.omtn.2021.10.005. eCollection 2021 Dec 3. Mol Ther Nucleic Acids. 2021. PMID: 34729253 Free PMC article.
22 results