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Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.
Liu D, Meyer D, Fennessy B, Feng C, Cheng E, Johnson JS, Park YJ, Rieder MK, Ascolillo S, de Pins A, Dobbyn A, Lebovitch D, Moya E, Nguyen TH, Wilkins L, Hassan A; Psychiatric Genomics Consortium Phase 3 Targeted Sequencing of Schizophrenia Study Team; Burdick KE, Buxbaum JD, Domenici E, Frangou S, Hartmann AM, Laurent-Levinson C, Malhotra D, Pato CN, Pato MT, Ressler K, Roussos P, Rujescu D, Arango C, Bertolino A, Blasi G, Bocchio-Chiavetto L, Campion D, Carr V, Fullerton JM, Gennarelli M, González-Peñas J, Levinson DF, Mowry B, Nimgaokar VL, Pergola G, Rampino A, Cervilla JA, Rivera M, Schwab SG, Wildenauer DB, Daly M, Neale B, Singh T, O'Donovan MC, Owen MJ, Walters JT, Ayub M, Malhotra AK, Lencz T, Sullivan PF, Sklar P, Stahl EA, Huckins LM, Charney AW. Liu D, et al. Nat Genet. 2023 Mar;55(3):369-376. doi: 10.1038/s41588-023-01305-1. Epub 2023 Mar 13. Nat Genet. 2023. PMID: 36914870 Free PMC article.
A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits.
Shanta O, Klein M, Sacks M, MacDonald JR, Maihofer A, Ahangari M, Engchuan W, Thiruvahindrapuram B, Guevara J, Hong O, Huguet G, Sønderby I, Kalyuzhny M, Adams MJ, Adolfsson R, Agartz I, Aiello AE, Alda M, Allardyce J, Amstadter AB, Andlauer TFM, Andreassen OA, Artigas MS, Austin SB, Ayub M, Baker DG, Bass N, Baune BT, Bayas M, Berger K, Biernacka JM, Bigdeli T, Bisson JI, Blackwood D, Boks M, Braff D, Bramon E, Breen G, Brueckl T, Bryant RA, Bulik CM, Buxbaum J, Cairns MJ, Caldas-de-Almeida JM, Campbell M, Campion D, Carr VJ, Castelao E, Chaumette B, Cichon S, Cohen D, Corvin A, Craddock N, Crosbie J, Czamara D, Dannlowski U, Degenhardt F, Delahanty DL, Dempfle A, Desachy G, Di Florio A, Dickerson FB, Djurovic S, Domschke K, Douglas L, Drange OK, Duncan LE, Edenberg HJ, Esko T, Faraone S, Feeny NC, Forstner AJ, Franke B, Frye M, Fu DJ, Fullerton JM, Gareeva A, Garvert L, Gatt JM, Gejman P, Geschwind DH, Giegling I, Glatt SJ, Glessner J, Goes FS, Gordon-Smith K, Grabe H, Green MJ, Green MF, Greenwood T, Grigoroiu-Serbanescu M, Gur RE, Gur RC, Guzman-Parra J, Haavik J, Hahn T, Hakonarson H, Hallmayer J, Hamshere ML, Hartmann AM, Hassan A, Hayward C, Hebebrand J, Hemmings SMJ, Herms… See abstract for full author list ➔ Shanta O, et al. medRxiv [Preprint]. 2025 Jul 16:2025.07.11.25331310. doi: 10.1101/2025.07.11.25331310. medRxiv. 2025. PMID: 40791719 Free PMC article. Preprint.
Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.
Engchuan W, Shanta O, Kumar K, MacDonald JR, Thiruvahindrapuram B, Hamdan O, Klein M, Maihofer A, Guevara J, Hong O, Huguet G, Sacks M, Ahangari M, Feitosa RMMW, Han K, Mendes M, Zhou X, Bautista NX, Pellecchia G, Wang Z, Merico D, Yuen RKC, Trost B, Sønderby I, Adams MJ, Adolfsson R, Agartz I, Aiello AE, Alda M, Allardyce J, Amstadter AB, Andlauer TFM, Andreassen OA, Artigas MS, Austin SB, Ayub M, Baker DG, Bass N, Baune BT, Bayas M, Berger K, Biernacka JM, Bigdeli T, Bisson JI, Blackwood D, Boks M, Braff D, Bramon E, Breen G, Brueckl T, Bryant RA, Bulik CM, Buxbaum J, Cairns MJ, Caldas-de-Almeida JM, Campbell M, Campion D, Carr VJ, Castelao E, Chaumette B, Cichon S, Cohen D, Corvin A, Craddock N, Crosbie J, Czamara D, Dannlowski U, Degenhardt F, Delahanty DL, Dempfle A, Desachy G, Di Florio A, Dickerson FB, Djurovic S, Domschke K, Douglas L, Drange OK, Duncan LE, Edenberg HJ, Esko T, Faraone S, Feeny NC, Forstner AJ, Franke B, Frye M, Fu DJ, Fullerton JM, Gareeva A, Garvert L, Gatt JM, Gejman P, Geschwind DH, Giegling I, Glatt SJ, Glessner J, Goes FS, Gordon-Smith K, Grabe H, Green MJ, Green MF, Greenwood T, Grigoroiu-Serbanescu M, Gur RE, Gur RC, Guzman-Parra J, Haavik J, Hahn … See abstract for full author list ➔ Engchuan W, et al. medRxiv [Preprint]. 2025 Jul 16:2025.07.11.25331381. doi: 10.1101/2025.07.11.25331381. medRxiv. 2025. PMID: 40791676 Free PMC article. Preprint.
Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.
Chang-Wolf JM, Kinzy TG, Driessen SJ, Cruz LA, Iyengar SK, Peachey NS, Aung T, Khor CC, Williams SE, Ramsay M, Olawoye O, Ashaye A, Klaver CCW, Hauser MA, Thiadens AAHJ, Cooke Bailey JN, Bonnemaijer PWM; Genetics in Glaucoma Patients of African Descent (GIGA) Study GroupGenetics of Glaucoma in People of African Descent (GGLAD) Study GroupMillion Veteran Program (MVP). Chang-Wolf JM, et al. JAMA Ophthalmol. 2025 Jan 1;143(1):7-14. doi: 10.1001/jamaophthalmol.2024.4784. JAMA Ophthalmol. 2025. PMID: 39541127 Free PMC article.
Evaluation of imputation performance of multiple reference panels in a Pakistani population.
Xu J, Liu D, Hassan A, Genovese G, Cote AC, Fennessy B, Cheng E, Charney AW, Knowles JA, Ayub M, Peterson RE, Bigdeli TB, Huckins LM. Xu J, et al. medRxiv [Preprint]. 2023 Dec 26:2023.12.22.23300448. doi: 10.1101/2023.12.22.23300448. medRxiv. 2023. Update in: HGG Adv. 2025 Apr 10;6(2):100395. doi: 10.1016/j.xhgg.2024.100395. PMID: 38234809 Free PMC article. Updated. Preprint.