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Page 1
Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.
Jacquemont S, Huguet G, Klein M, Chawner SJRA, Donald KA, van den Bree MBM, Sebat J, Ledbetter DH, Constantino JN, Earl RK, McDonald-McGinn DM, van Amelsvoort T, Swillen A, O'Donnell-Luria AH, Glahn DC, Almasy L, Eichler EE, Scherer SW, Robinson E, Bassett AS, Martin CL, Finucane B, Vorstman JAS, Bearden CE, Gur RE; Genes to Mental Health Network. Jacquemont S, et al. Among authors: sebat j. Am J Psychiatry. 2022 Mar;179(3):189-203. doi: 10.1176/appi.ajp.2021.21040432. Am J Psychiatry. 2022. PMID: 35236119 Free PMC article. Review.
Completing the map of human genetic variation.
Human Genome Structural Variation Working Group; Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. Human Genome Structural Variation Working Group, et al. Among authors: sebat j. Nature. 2007 May 10;447(7141):161-5. doi: 10.1038/447161a. Nature. 2007. PMID: 17495918 Free PMC article. No abstract available.
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. Walsh T, et al. Among authors: sebat j. Science. 2008 Apr 25;320(5875):539-43. doi: 10.1126/science.1155174. Epub 2008 Mar 27. Science. 2008. PMID: 18369103
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. Girirajan S, et al. Among authors: sebat j. Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154674 Free PMC article.
Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia.
Bergen SE, Ploner A, Howrigan D; CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium; O'Donovan MC, Smoller JW, Sullivan PF, Sebat J, Neale B, Kendler KS. Bergen SE, et al. Among authors: sebat j. Am J Psychiatry. 2019 Jan 1;176(1):29-35. doi: 10.1176/appi.ajp.2018.17040467. Epub 2018 Nov 5. Am J Psychiatry. 2019. PMID: 30392412 Free PMC article.
A framework for the investigation of rare genetic disorders in neuropsychiatry.
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. Sanders SJ, et al. Among authors: sebat j. Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23. Nat Med. 2019. PMID: 31548702 Free PMC article. Review.
The effects of common structural variants on 3D chromatin structure.
Shanta O, Noor A; Human Genome Structural Variation Consortium (HGSVC); Sebat J. Shanta O, et al. Among authors: sebat j. BMC Genomics. 2020 Jan 30;21(1):95. doi: 10.1186/s12864-020-6516-1. BMC Genomics. 2020. PMID: 32000688 Free PMC article.
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. Antaki D, et al. Among authors: sebat j. Nat Genet. 2022 Sep;54(9):1284-1292. doi: 10.1038/s41588-022-01064-5. Epub 2022 Jun 2. Nat Genet. 2022. PMID: 35654974 Free PMC article.
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. Antaki D, et al. Among authors: sebat j. Nat Genet. 2022 Aug;54(8):1259. doi: 10.1038/s41588-022-01145-5. Nat Genet. 2022. PMID: 35768728 No abstract available.
Rare copy number variation in posttraumatic stress disorder.
Maihofer AX, Engchuan W, Huguet G, Klein M, MacDonald JR, Shanta O, Thiruvahindrapuram B, Jean-Louis M, Saci Z, Jacquemont S, Scherer SW, Ketema E, Aiello AE, Amstadter AB, Avdibegović E, Babic D, Baker DG, Bisson JI, Boks MP, Bolger EA, Bryant RA, Bustamante AC, Caldas-de-Almeida JM, Cardoso G, Deckert J, Delahanty DL, Domschke K, Dunlop BW, Dzubur-Kulenovic A, Evans A, Feeny NC, Franz CE, Gautam A, Geuze E, Goci A, Hammamieh R, Jakovljevic M, Jett M, Jones I, Kaufman ML, Kessler RC, King AP, Kremen WS, Lawford BR, Lebois LAM, Lewis C, Liberzon I, Linnstaedt SD, Lugonja B, Luykx JJ, Lyons MJ, Mavissakalian MR, McLaughlin KA, McLean SA, Mehta D, Mellor R, Morris CP, Muhie S, Orcutt HK, Peverill M, Ratanatharathorn A, Risbrough VB, Rizzo A, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero KJ, Rutten BPF, Schijven D, Seng JS, Sheerin CM, Sorenson MA, Teicher MH, Uddin M, Ursano RJ, Vinkers CH, Voisey J, Weber H, Winternitz S, Xavier M, Yang R, McD Young R, Zoellner LA; Psychiatric Genomics Consortium PTSD Working Group; Psychiatric Genomics Consortium CNV Working Group; Salem RM, Shaffer RA, Wu T, Ressler KJ, Stein MB, Koenen KC, Sebat J, Nievergelt CM. Maihofer AX, et al. Among authors: sebat j. Mol Psychiatry. 2022 Dec;27(12):5062-5069. doi: 10.1038/s41380-022-01776-4. Epub 2022 Sep 21. Mol Psychiatry. 2022. PMID: 36131047 Free PMC article.
107 results