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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2020 | 1 |
2021 | 2 |
2022 | 3 |
2023 | 1 |
2024 | 1 |
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Page 1
Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.
medRxiv [Preprint]. 2024 Apr 4:2024.04.03.24305278. doi: 10.1101/2024.04.03.24305278.
medRxiv. 2024.
PMID: 38633780
Free PMC article.
Preprint.
Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development.
Cuddleston WH, Fan X, Sloofman L, Liang L, Mossotto E, Moore K, Zipkowitz S, Wang M, Zhang B, Wang J, Sestan N, Devlin B, Roeder K, Sanders SJ, Buxbaum JD, Breen MS.
Cuddleston WH, et al.
Cell Rep. 2022 Nov 1;41(5):111585. doi: 10.1016/j.celrep.2022.111585.
Cell Rep. 2022.
PMID: 36323256
Free PMC article.
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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.
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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A.
Pavinato L, et al.
Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278.
Brain. 2023.
PMID: 35979925
Free PMC article.
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Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.
Mahjani B, De Rubeis S, Gustavsson Mahjani C, Mulhern M, Xu X, Klei L, Satterstrom FK, Fu J, Talkowski ME, Reichenberg A, Sandin S, Hultman CM, Grice DE, Roeder K, Devlin B, Buxbaum JD.
Mahjani B, et al.
Mol Autism. 2021 Oct 6;12(1):65. doi: 10.1186/s13229-021-00465-3.
Mol Autism. 2021.
PMID: 34615535
Free PMC article.
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How rare and common risk variation jointly affect liability for autism spectrum disorder.
Klei L, McClain LL, Mahjani B, Panayidou K, De Rubeis S, Grahnat AS, Karlsson G, Lu Y, Melhem N, Xu X, Reichenberg A, Sandin S, Hultman CM, Buxbaum JD, Roeder K, Devlin B.
Klei L, et al.
Mol Autism. 2021 Oct 6;12(1):66. doi: 10.1186/s13229-021-00466-2.
Mol Autism. 2021.
PMID: 34615521
Free PMC article.
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Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A.
Pavinato L, et al.
J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15.
J Med Genet. 2022.
PMID: 33323470
Free PMC article.
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