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Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases.
Yuan K, Longchamps RJ, Pardiñas AF, Yu M, Chen TT, Lin SC, Chen Y, Lam M, Liu R, Xia Y, Guo Z, Shi W, Shen C; Schizophrenia Workgroup of Psychiatric Genomics Consortium; Daly MJ, Neale BM, Feng YA, Lin YF, Chen CY, O'Donovan M, Ge T, Huang H. Yuan K, et al. Among authors: neale bm. medRxiv [Preprint]. 2023 Jul 9:2023.01.07.23284293. doi: 10.1101/2023.01.07.23284293. medRxiv. 2023. Update in: Nat Genet. 2024 Sep;56(9):1841-1850. doi: 10.1038/s41588-024-01870-z PMID: 36711496 Free PMC article. Updated. Preprint.
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
Neale BM, Medland SE, Ripke S, Asherson P, Franke B, Lesch KP, Faraone SV, Nguyen TT, Schäfer H, Holmans P, Daly M, Steinhausen HC, Freitag C, Reif A, Renner TJ, Romanos M, Romanos J, Walitza S, Warnke A, Meyer J, Palmason H, Buitelaar J, Vasquez AA, Lambregts-Rommelse N, Gill M, Anney RJ, Langely K, O'Donovan M, Williams N, Owen M, Thapar A, Kent L, Sergeant J, Roeyers H, Mick E, Biederman J, Doyle A, Smalley S, Loo S, Hakonarson H, Elia J, Todorov A, Miranda A, Mulas F, Ebstein RP, Rothenberger A, Banaschewski T, Oades RD, Sonuga-Barke E, McGough J, Nisenbaum L, Middleton F, Hu X, Nelson S; Psychiatric GWAS Consortium: ADHD Subgroup. Neale BM, et al. J Am Acad Child Adolesc Psychiatry. 2010 Sep;49(9):884-97. doi: 10.1016/j.jaac.2010.06.008. Epub 2010 Aug 1. J Am Acad Child Adolesc Psychiatry. 2010. PMID: 20732625 Free PMC article.
Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.
Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; iPSYCH-GEMS Schizophrenia Working Group; Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA. Huckins LM, et al. Nat Genet. 2019 Jun;51(6):1068. doi: 10.1038/s41588-019-0435-6. Nat Genet. 2019. PMID: 31086353
A harmonized public resource of deeply sequenced diverse human genomes.
Koenig Z, Yohannes MT, Nkambule LL, Zhao X, Goodrich JK, Kim HA, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Walker MA, Lyu Y; gnomAD Project Consortium; Rehm HL, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: neale bm. bioRxiv [Preprint]. 2024 Feb 28:2023.01.23.525248. doi: 10.1101/2023.01.23.525248. bioRxiv. 2024. Update in: Genome Res. 2024 Jun 25;34(5):796-809. doi: 10.1101/gr.278378.123 PMID: 36747613 Free PMC article. Updated. Preprint.
Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity.
Tsuo K, Zhou W, Wang Y, Kanai M, Namba S, Gupta R, Majara L, Nkambule LL, Morisaki T, Okada Y, Neale BM; Global Biobank Meta-analysis Initiative; Daly MJ, Martin AR. Tsuo K, et al. Among authors: neale bm. Cell Genom. 2022 Nov 8;2(12):100212. doi: 10.1016/j.xgen.2022.100212. eCollection 2022 Dec 14. Cell Genom. 2022. PMID: 36778051 Free PMC article.
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, Jacob H, Sexton D, Bronson PG, Chen X, Hu X, Goldstein JI, King D, Vittal C, Poterba T, Palmer DS, Churchhouse C, Howrigan DP, Zhou W, Watts NA, Nguyen K, Nguyen H, Mason C, Farnham C, Tolonen C, Gauthier LD, Gupta N, MacArthur DG, Rehm HL, Seed C, Philippakis AA, Daly MJ, Davis JW, Runz H, Miller MR, Neale BM. Karczewski KJ, et al. Among authors: neale bm. Cell Genom. 2022 Aug 15;2(9):100168. doi: 10.1016/j.xgen.2022.100168. eCollection 2022 Sep 14. Cell Genom. 2022. PMID: 36778668 Free PMC article.
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. Among authors: neale bm. bioRxiv [Preprint]. 2023 Aug 21:2023.03.19.533370. doi: 10.1101/2023.03.19.533370. bioRxiv. 2023. Update in: Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3 PMID: 36993580 Free PMC article. Updated. Preprint.
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.
Zhou H, Arapoglou T, Li X, Li Z, Zheng X, Moore J, Asok A, Kumar S, Blue EE, Buyske S, Cox N, Felsenfeld A, Gerstein M, Kenny E, Li B, Matise T, Philippakis A, Rehm HL, Sofia HJ, Snyder G; NHGRI Genome Sequencing Program Variant Functional Annotation Working Group; Weng Z, Neale B, Sunyaev SR, Lin X. Zhou H, et al. Nucleic Acids Res. 2023 Jan 6;51(D1):D1300-D1311. doi: 10.1093/nar/gkac966. Nucleic Acids Res. 2023. PMID: 36350676 Free PMC article.
Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases.
Zhao H, Rasheed H, Nøst TH, Cho Y, Liu Y, Bhatta L, Bhattacharya A; Global Biobank Meta-analysis Initiative; Hemani G, Davey Smith G, Brumpton BM, Zhou W, Neale BM, Gaunt TR, Zheng J. Zhao H, et al. Among authors: neale bm. Cell Genom. 2022 Nov 9;2(11):None. doi: 10.1016/j.xgen.2022.100195. Cell Genom. 2022. PMID: 36388766 Free PMC article.
377 results