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Paternally inherited cis-regulatory structural variants are associated with autism.
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. Brandler WM, et al. Among authors: muotri ar. Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261. Science. 2018. PMID: 29674594 Free PMC article.
Modeling autism spectrum disorders with human neurons.
Beltrão-Braga PC, Muotri AR. Beltrão-Braga PC, et al. Among authors: muotri ar. Brain Res. 2017 Feb 1;1656:49-54. doi: 10.1016/j.brainres.2016.01.057. Epub 2016 Feb 5. Brain Res. 2017. PMID: 26854137 Free PMC article. Review.
Frequency and Complexity of De Novo Structural Mutation in Autism.
Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J. Brandler WM, et al. Among authors: muotri ar. Am J Hum Genet. 2016 Apr 7;98(4):667-79. doi: 10.1016/j.ajhg.2016.02.018. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018473 Free PMC article.
Altered proliferation and networks in neural cells derived from idiopathic autistic individuals.
Marchetto MC, Belinson H, Tian Y, Freitas BC, Fu C, Vadodaria K, Beltrao-Braga P, Trujillo CA, Mendes APD, Padmanabhan K, Nunez Y, Ou J, Ghosh H, Wright R, Brennand K, Pierce K, Eichenfield L, Pramparo T, Eyler L, Barnes CC, Courchesne E, Geschwind DH, Gage FH, Wynshaw-Boris A, Muotri AR. Marchetto MC, et al. Among authors: muotri ar. Mol Psychiatry. 2017 Jun;22(6):820-835. doi: 10.1038/mp.2016.95. Epub 2016 Jul 5. Mol Psychiatry. 2017. PMID: 27378147 Free PMC article.
Getting to the Cores of Autism.
Iakoucheva LM, Muotri AR, Sebat J. Iakoucheva LM, et al. Among authors: muotri ar. Cell. 2019 Sep 5;178(6):1287-1298. doi: 10.1016/j.cell.2019.07.037. Cell. 2019. PMID: 31491383 Free PMC article. Review.
Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment.
Trujillo CA, Rice ES, Schaefer NK, Chaim IA, Wheeler EC, Madrigal AA, Buchanan J, Preissl S, Wang A, Negraes PD, Szeto RA, Herai RH, Huseynov A, Ferraz MSA, Borges FS, Kihara AH, Byrne A, Marin M, Vollmers C, Brooks AN, Lautz JD, Semendeferi K, Shapiro B, Yeo GW, Smith SEP, Green RE, Muotri AR. Trujillo CA, et al. Among authors: muotri ar. Science. 2021 Feb 12;371(6530):eaax2537. doi: 10.1126/science.aax2537. Science. 2021. PMID: 33574182 Free PMC article.
Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling.
Amar M, Pramod AB, Yu NK, Herrera VM, Qiu LR, Moran-Losada P, Zhang P, Trujillo CA, Ellegood J, Urresti J, Chau K, Diedrich J, Chen J, Gutierrez J, Sebat J, Ramanathan D, Lerch JP, Yates JR 3rd, Muotri AR, Iakoucheva LM. Amar M, et al. Among authors: muotri ar. Mol Psychiatry. 2021 Jul;26(7):3586-3613. doi: 10.1038/s41380-021-01052-x. Epub 2021 Mar 16. Mol Psychiatry. 2021. PMID: 33727673 Free PMC article.
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.
Urresti J, Zhang P, Moran-Losada P, Yu NK, Negraes PD, Trujillo CA, Antaki D, Amar M, Chau K, Pramod AB, Diedrich J, Tejwani L, Romero S, Sebat J, Yates Iii JR, Muotri AR, Iakoucheva LM. Urresti J, et al. Among authors: muotri ar. Mol Psychiatry. 2021 Dec;26(12):7560-7580. doi: 10.1038/s41380-021-01243-6. Epub 2021 Aug 26. Mol Psychiatry. 2021. PMID: 34433918 Free PMC article.
196 results