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Year Number of Results
2014 1
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2017 5
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39 results

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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.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C; Autism Sequencing Consortium; iPSYCH-Broad Consortium; Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Satterstrom FK, et al. Cell. 2020 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23. Cell. 2020. PMID: 31981491 Free PMC article.
Neuropsychological Assessment in Autism Spectrum Disorder.
Braconnier ML, Siper PM. Braconnier ML, et al. Among authors: siper pm. Curr Psychiatry Rep. 2021 Jul 30;23(10):63. doi: 10.1007/s11920-021-01277-1. Curr Psychiatry Rep. 2021. PMID: 34331144 Free PMC article. Review.
DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
Levy T, Siper PM, Lerman B, Halpern D, Zweifach J, Belani P, Thurm A, Kleefstra T, Berry-Kravis E, Buxbaum JD, Grice DE. Levy T, et al. Among authors: siper pm. Pediatr Neurol. 2023 Jan;138:87-94. doi: 10.1016/j.pediatrneurol.2022.10.009. Epub 2022 Oct 27. Pediatr Neurol. 2023. PMID: 36434914 Free article. Review.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
Improving autism identification and support for individuals assigned female at birth: clinical suggestions and research priorities.
Lai MC, Amestoy A, Bishop S, Brown HM, Giwa Onaiwu M, Halladay A, Harrop C, Hotez E, Huerta M, Kelly A, Miller D, Nordahl CW, Ratto AB, Saulnier C, Siper PM, Sohl K, Zwaigenbaum L, Goldman S. Lai MC, et al. Among authors: siper pm. Lancet Child Adolesc Health. 2023 Dec;7(12):897-908. doi: 10.1016/S2352-4642(23)00221-3. Lancet Child Adolesc Health. 2023. PMID: 37973254 Review.
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Levy T, Gluckman J, Siper PM, Halpern D, Zweifach J, Filip-Dhima R, Holder JL Jr, Trelles MP, Johnson K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Buxbaum JD, Sahin M, Kolevzon A, Srivastava S; Developmental Synaptopathies Consortium. Levy T, et al. Among authors: siper pm. J Neurodev Disord. 2024 May 10;16(1):25. doi: 10.1186/s11689-024-09541-0. J Neurodev Disord. 2024. PMID: 38730350 Free PMC article.
Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome.
Kolevzon A, Breen MS, Siper PM, Halpern D, Frank Y, Rieger H, Weismann J, Trelles MP, Lerman B, Rapaport R, Buxbaum JD. Kolevzon A, et al. Among authors: siper pm. Mol Autism. 2022 Apr 8;13(1):17. doi: 10.1186/s13229-022-00493-7. Mol Autism. 2022. PMID: 35395866 Free PMC article. Clinical Trial.
39 results