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Page 1
Phenotype harmonization and analysis for The Populations Underrepresented in Mental illness Association Studies (the PUMAS Project).
Ramirez-Diaz AM, Diaz-Zuluaga AM, Stroud RE 2nd, Vreeker A, Bitta M, Ivankovic F, Wootton O, Whiteman CA, Mountcastle H, Jha SC, Georgakopoulos P, Kaur I, Mena L, Asaaf S, de Souza Rodrigues AL, Ziebold C, Newton CRJC, Stein DJ, Akena D, Valencia-Echeverry J, Kyebuzibwa J, Palacio-Ortiz JD, McMahon J, Ongeri L, Chibnik LB, Quarantini LC, Atwoli L, Santoro ML, Baker M, Diniz MJA, Castaño-Ramirez M, Alemayehu M, Holanda N, Ayola-Serrano NC, Lorencetti PG, Mwema RM, James R, Albuquerque S, Sharma S, Chapman SB, Belangero SI, Teferra S, Gichuru S, Service SK, Kariuki SM, Freitas TH, Zingela Z, Gadelha A, Bearden CE, Ophoff RA, Neale BM, Martin AR, Koenen KC, Pato CN, Lopez-Jaramillo C, Reus V, Freimer N, Pato MT, Gelaye B, Loohuis LO. Ramirez-Diaz AM, et al. Among authors: pato cn. medRxiv [Preprint]. 2024 Oct 4:2024.10.02.24314732. doi: 10.1101/2024.10.02.24314732. medRxiv. 2024. PMID: 39502669 Free PMC article. Preprint.
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.
Boltz TA, Chu BB, Liao C, Sealock JM, Ye R, Majara L, Fu JM, Service S, Zhan L, Medland SE, Chapman SB, Rubinacci S, DeFelice M, Grimsby JL, Abebe T, Alemayehu M, Ashaba FK, Atkinson EG, Bigdeli T, Bradway AB, Brand H, Chibnik LB, Fekadu A, Gatzen M, Gelaye B, Gichuru S, Gildea ML, Hill TC, Huang H, Hubbard KM, Injera WE, James R, Joloba M, Kachulis C, Kalmbach PR, Kamulegeya R, Kigen G, Kim S, Koen N, Kwobah EK, Kyebuzibwa J, Lee S, Lennon NJ, Lind PA, Lopera-Maya EA, Makale J, Mangul S, McMahon J, Mowlem P, Musinguzi H, Mwema RM, Nakasujja N, Newman CP, Nkambule LL, O'Neil CR, Olivares AM, Olsen CM, Ongeri L, Parsa SJ, Pretorius A, Ramesar R, Reagan FL, Sabatti C, Schneider JA, Shiferaw W, Stevenson A, Stricker E, Stroud RE 2nd, Tang J, Whiteman D, Yohannes MT, Yu M, Yuan K; NeuroGAP-Psychosis; Akena D, Atwoli L, Kariuki SM, Koenen KC, Newton CRJC, Stein DJ, Teferra S, Zingela Z, Pato CN, Pato MT, Lopez-Jaramillo C, Freimer N, Ophoff RA, Olde Loohuis LM, Talkowski ME, Neale BM, Howrigan DP, Martin AR. Boltz TA, et al. Among authors: pato cn. bioRxiv [Preprint]. 2024 Sep 8:2024.09.06.611689. doi: 10.1101/2024.09.06.611689. bioRxiv. 2024. PMID: 39282356 Free PMC article. Preprint.
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443 Free PMC article.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664 Free PMC article.
Identifying genetic differences between bipolar disorder and major depression through multiple genome-wide association analyses.
Panagiotaropoulou G, Hellberg KG, Coleman JRI, Seok D, Kalman J; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; iPSYCH Study Consortium; Mitchell PB, Schofield PR, Forstner AJ, Bauer M, Scott LJ, Pato CN, Pato MT, Li QS, Kirov G, Landén M, Jonsson L, Müller-Myhsok B, Smoller JW, Binder EB, Brückl TM, Czamara D, Van der Auwera S, Grabe HJ, Homuth G, Schmidt CO, Potash JB, DePaulo JR, Goes FS, MacKinnon DF, Mondimore FM, Weissman MM, Shi J, Frye MA, Biernacka JM, Reif A, Witt SH, Kahn RR, Boks MM, Owen MJ, Gordon-Smith K, Mitchell BL, Martin NG, Medland SE, Jones L, Knowles JA, Levinson DF, O'Donovan MC, Lewis CM, Breen G, Werge T, Schork AJ, Ophoff RA, Ripke S, Olde Loohuis L. Panagiotaropoulou G, et al. Among authors: pato cn. Br J Psychiatry. 2025 Jan 14:1-12. doi: 10.1192/bjp.2024.125. Online ahead of print. Br J Psychiatry. 2025. PMID: 39806801
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia.
Li R, Taliun SAG, Liao K, Flickinger M, Sobell JL, Genovese G, Locke AE, Chiu RR, LeFaive J, Martins T, Chapman S, Neumann A, Handsaker RE, Arnett DK, Barnes KC, Boerwinkle E, Braff D, Cade BE, Fornage M, Gibbs RA, Hoth KF, Hou L, Kooperberg C, Loos RJF, Metcalf GA, Montgomery CG, Morrison AC, Qin ZS, Redline S, Reiner AP, Rich SS, Rotter JI, Taylor KD, Viaud-Martinez KA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Genomic Psychiatry Cohort investigators; Bigdeli TB, Gabriel S, Zollner S, Smith AV, Abecasis G, McCarroll S, Pato MT, Pato CN, Boehnke M, Knowles J, Kang HM, Ophoff RA, Ernst J, Scott LJ. Li R, et al. Among authors: pato cn. medRxiv [Preprint]. 2024 Dec 29:2024.12.27.24319111. doi: 10.1101/2024.12.27.24319111. medRxiv. 2024. PMID: 39763555 Free PMC article. Preprint.
Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders.
Strom NI, Halvorsen MW, Grove J, Ásbjörnsdóttir B, Luðvígsson P, Thorarensen Ó, de Schipper E, Bäckmann J, Andrén P, Tian C; PGC TS Working Group; 23andMe Research Team; Als TD, Nissen JB, Meier SM, Bybjerg-Grauholm J, Hougaard DM, Werge T, Børglum AD, Hinds DA, Rück C, Mataix-Cols D, Stefánsson H, Stefansson K, Crowley JJ, Mattheisen M. Strom NI, et al. Biol Psychiatry. 2024 Oct 9:S0006-3223(24)01648-2. doi: 10.1016/j.biopsych.2024.07.025. Online ahead of print. Biol Psychiatry. 2024. PMID: 39389409 Free article.
Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs.
Zhang H, McCarroll A, Peyton L, Díaz de León-Guerrerro S, Zhang S, Gowda P, Sirkin D, ElAchwah M, Duhe A, Wood WG, Jamison B, Tracy G, Pollak R, Hart RP, Pato CN, Mulle JG, Sanders AR, Pang ZP, Duan J. Zhang H, et al. Among authors: pato cn. Stem Cell Reports. 2024 Oct 8;19(10):1489-1504. doi: 10.1016/j.stemcr.2024.08.003. Epub 2024 Sep 12. Stem Cell Reports. 2024. PMID: 39270650 Free PMC article.
162 results