Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

361 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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.
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.
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.
Bayesian multivariate genetic analysis improves translational insights.
Urbut SM, Koyama S, Hornsby W, Bhukar R, Kheterpal S, Truong B, Selvaraj MS, Neale B, O'Donnell CJ, Peloso GM, Natarajan P. Urbut SM, et al. iScience. 2023 Sep 9;26(10):107854. doi: 10.1016/j.isci.2023.107854. eCollection 2023 Oct 20. iScience. 2023. PMID: 37766997 Free PMC article.
Ancestry: How researchers use it and what they mean by it.
Dauda B, Molina SJ, Allen DS, Fuentes A, Ghosh N, Mauro M, Neale BM, Panofsky A, Sohail M, Zhang SR, Lewis ACF. Dauda B, et al. Among authors: neale bm. Front Genet. 2023 Jan 23;14:1044555. doi: 10.3389/fgene.2023.1044555. eCollection 2023. Front Genet. 2023. PMID: 36755575 Free PMC article.
The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
Chao KR, Wang L, Panchal R, Liao C, Abderrazzaq H, Ye R, Schultz P, Compitello J, Grant RH, Kosmicki JA, Weisburd B, Phu W, Wilson MW, Laricchia KM, Goodrich JK, Goldstein D, Goldstein JI, Vittal C, Poterba T, Baxter S, Watts NA, Solomonson M; gnomAD Consortium; Tiao G, Rehm HL, Neale BM, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Karczewski KJ, Radivojac P, Daly MJ, Samocha KE. Chao KR, et al. Among authors: neale bm. bioRxiv [Preprint]. 2024 Apr 13:2024.04.11.588920. doi: 10.1101/2024.04.11.588920. bioRxiv. 2024. PMID: 38645134 Free PMC article. Preprint.
Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays.
DeFelice M, Grimsby JL, Howrigan D, Yuan K, Chapman SB, Stevens C, DeLuca S, Townsend M, Buxbaum J, Pericak-Vance M, Qin S, Stein DJ, Teferra S, Xavier RJ, Huang H, Martin AR, Neale BM. DeFelice M, et al. Among authors: neale bm. bioRxiv [Preprint]. 2024 Apr 9:2024.04.03.587209. doi: 10.1101/2024.04.03.587209. bioRxiv. 2024. PMID: 38645052 Free PMC article. Preprint.
361 results