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Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, Blackwood D, Boks MPM, Chen CY, Churchhouse C, Corvin AP, Craddock N, Curtis D, Di Florio A, Dickerson F, Freimer NB, Goes FS, Jia X, Jones I, Jones L, Jonsson L, Kahn RS, Landén M, Locke AE, McIntosh AM, McQuillin A, Morris DW, O'Donovan MC, Ophoff RA, Owen MJ, Pedersen NL, Posthuma D, Reif A, Risch N, Schaefer C, Scott L, Singh T, Smoller JW, Solomonson M, Clair DS, Stahl EA, Vreeker A, Walters JTR, Wang W, Watts NA, Yolken R, Zandi PP, Neale BM. Palmer DS, et al. Nat Genet. 2022 May;54(5):541-547. doi: 10.1038/s41588-022-01034-x. Epub 2022 Apr 11. Nat Genet. 2022. PMID: 35410376 Free PMC article.
Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder.
Hasin N, Riggs LM, Shekhtman T, Ashworth J, Lease R, Oshone RT, Humphries EM, Badner JA, Thomson PA, Glahn DC, Craig DW, Edenberg HJ, Gershon ES, McMahon FJ, Nurnberger JI, Zandi PP, Kelsoe JR, Roach JC, Gould TD, Ament SA. Hasin N, et al. Mol Psychiatry. 2022 Sep;27(9):3842-3856. doi: 10.1038/s41380-022-01609-4. Epub 2022 May 11. Mol Psychiatry. 2022. PMID: 35546635
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. Jia X, et al. Mol Psychiatry. 2021 Sep;26(9):5239-5250. doi: 10.1038/s41380-020-01006-9. Epub 2021 Jan 22. Mol Psychiatry. 2021. PMID: 33483695 Free PMC article.
Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.
Humphries EM, Ahn K, Kember RL, Lopes FL, Mocci E, Peralta JM, Blangero J, Glahn DC, Goes FS, Zandi PP, Kochunov P, Van Hout C, Shuldiner AR, Pollin TI, Mitchell BD, Bucan M, Hong LE, McMahon FJ, Ament SA. Humphries EM, et al. Mol Psychiatry. 2023 Dec;28(12):5262-5271. doi: 10.1038/s41380-023-02014-1. Epub 2023 Mar 7. Mol Psychiatry. 2023. PMID: 36882501 Free PMC article.