Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function - PubMed (original) (raw)

• Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.
  Carlisle SG, Albasha H, Michelena HI, Sabate-Rotes A, Bianco L, De Backer J, Mosquera LM, Yetman AT, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Guo D, Citro R, De Marco M, Tretter JT, McBride KL, Milewicz DM, Body SC, Prakash SK; EBAV Investigators; BAVCon Investigators. Carlisle SG, et al. PLoS One. 2024 Sep 6;19(9):e0304514. doi: 10.1371/journal.pone.0304514. eCollection 2024. PLoS One. 2024. PMID: 39240962 Free PMC article.
• DNA Damage and Parkinson's Disease.
  Pfeifer GP. Pfeifer GP. Int J Mol Sci. 2024 Apr 10;25(8):4187. doi: 10.3390/ijms25084187. Int J Mol Sci. 2024. PMID: 38673772 Free PMC article. Review.
• Rare copy number variation in autoimmune Addison's disease.
  Artaza H, Eriksson D, Lavrichenko K, Aranda-Guillén M, Bratland E, Vaudel M, Knappskog P, Husebye ES, Bensing S, Wolff ASB, Kämpe O, Røyrvik EC, Johansson S. Artaza H, et al. Front Immunol. 2024 Mar 18;15:1374499. doi: 10.3389/fimmu.2024.1374499. eCollection 2024. Front Immunol. 2024. PMID: 38562931 Free PMC article.
• Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
  Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
• 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. 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.