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Page 1
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Zhou W, Kanai M, Wu KH, Rasheed H, Tsuo K, Hirbo JB, Wang Y, Bhattacharya A, Zhao H, Namba S, Surakka I, Wolford BN, Lo Faro V, Lopera-Maya EA, Läll K, Favé MJ, Partanen JJ, Chapman SB, Karjalainen J, Kurki M, Maasha M, Brumpton BM, Chavan S, Chen TT, Daya M, Ding Y, Feng YA, Guare LA, Gignoux CR, Graham SE, Hornsby WE, Ingold N, Ismail SI, Johnson R, Laisk T, Lin K, Lv J, Millwood IY, Moreno-Grau S, Nam K, Palta P, Pandit A, Preuss MH, Saad C, Setia-Verma S, Thorsteinsdottir U, Uzunovic J, Verma A, Zawistowski M, Zhong X, Afifi N, Al-Dabhani KM, Al Thani A, Bradford Y, Campbell A, Crooks K, de Bock GH, Damrauer SM, Douville NJ, Finer S, Fritsche LG, Fthenou E, Gonzalez-Arroyo G, Griffiths CJ, Guo Y, Hunt KA, Ioannidis A, Jansonius NM, Konuma T, Lee MTM, Lopez-Pineda A, Matsuda Y, Marioni RE, Moatamed B, Nava-Aguilar MA, Numakura K, Patil S, Rafaels N, Richmond A, Rojas-Muñoz A, Shortt JA, Straub P, Tao R, Vanderwerff B, Vernekar M, Veturi Y, Barnes KC, Boezen M, Chen Z, Chen CY, Cho J, Smith GD, Finucane HK, Franke L, Gamazon ER, Ganna A, Gaunt TR, Ge T, Huang H, Huffman J, Katsanis N, Koskela JT, Lajonchere C, Law MH, Li L, Lindgren CM, Loos RJF, MacGregor S, Matsuda K, Olsen CM… See abstract for full author list ➔ Zhou W, et al. Among authors: rader dj. Cell Genom. 2022 Oct 12;2(10):100192. doi: 10.1016/j.xgen.2022.100192. eCollection 2022 Oct 12. Cell Genom. 2022. PMID: 36777996 Free PMC article.
Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.
Park J, MacLean MT, Lucas AM, Torigian DA, Schneider CV, Cherlin T, Xiao B, Miller JE, Bradford Y, Judy RL; Regeneron Genetics Center; Verma A, Damrauer SM, Ritchie MD, Witschey WR, Rader DJ. Park J, et al. Among authors: rader dj. Cell Rep Med. 2022 Dec 20;3(12):100855. doi: 10.1016/j.xcrm.2022.100855. Epub 2022 Dec 12. Cell Rep Med. 2022. PMID: 36513072 Free PMC article.
Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.
Hui D, Mehrabi S, Quimby AE, Chen T, Chen S, Park J, Li B; Regeneron Genetics Center; Penn Medicine Biobank; Ruckenstein MJ, Rader DJ, Ritchie MD, Brant JA, Epstein DJ, Mathieson I. Hui D, et al. Among authors: rader dj. PLoS Genet. 2023 Jan 19;19(1):e1010584. doi: 10.1371/journal.pgen.1010584. eCollection 2023 Jan. PLoS Genet. 2023. PMID: 36656851 Free PMC article.
Author Correction: The power of genetic diversity in genome-wide association studies of lipids.
Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesl… See abstract for full author list ➔ Graham SE, et al. Among authors: rader dj. Nature. 2023 Jun;618(7965):E19-E20. doi: 10.1038/s41586-023-06194-2. Nature. 2023. PMID: 37237109 Free PMC article. 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
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
Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.
Yu Chen H, Dina C, Small AM, Shaffer CM, Levinson RT, Helgadóttir A, Capoulade R, Munter HM, Martinsson A, Cairns BJ, Trudsø LC, Hoekstra M, Burr HA, Marsh TW, Damrauer SM, Dufresne L, Le Scouarnec S, Messika-Zeitoun D, Ranatunga DK, Whitmer RA, Bonnefond A, Sveinbjornsson G, Daníelsen R, Arnar DO, Thorgeirsson G, Thorsteinsdottir U, Gudbjartsson DF, Hólm H, Ghouse J, Olesen MS, Christensen AH, Mikkelsen S, Jacobsen RL, Dowsett J, Pedersen OBV, Erikstrup C, Ostrowski SR; Regeneron Genetics Center; O'Donnell CJ, Budoff MJ, Gudnason V, Post WS, Rotter JI, Lathrop M, Bundgaard H, Johansson B, Ljungberg J, Näslund U, Le Tourneau T, Smith JG, Wells QS, Söderberg S, Stefánsson K, Schott JJ, Rader DJ, Clarke R, Engert JC, Thanassoulis G. Yu Chen H, et al. Among authors: rader dj. Eur Heart J. 2023 Jun 1;44(21):1927-1939. doi: 10.1093/eurheartj/ehad142. Eur Heart J. 2023. PMID: 37038246 Free PMC article.
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.
Pyle LC, Kim J, Bradfield J, Damrauer SM, D'Andrea K, Einhorn LH, Godse R, Hakonarson H, Kanetsky PA, Kember RL, Jacobs LA, Maxwell KN, Rader DJ, Vaughn DJ, Weathers B, Wubbenhorst B, Regeneron Genetics Center Research Team, Cancer Genomics Research Laboratory, Greene MH, Nathanson KL, Stewart DR. Pyle LC, et al. Among authors: rader dj. Eur Urol. 2024 Apr;85(4):337-345. doi: 10.1016/j.eururo.2023.05.008. Epub 2023 May 26. Eur Urol. 2024. PMID: 37246069
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D; Regeneron Genetics Center; Penn Medicine BioBank; Green RC, Gold NB. Gold JI, et al. HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37593415 Free PMC article.
Prior vaccination promotes early activation of memory T cells and enhances immune responses during SARS-CoV-2 breakthrough infection.
Painter MM, Johnston TS, Lundgreen KA, Santos JJS, Qin JS, Goel RR, Apostolidis SA, Mathew D, Fulmer B, Williams JC, McKeague ML, Pattekar A, Goode A, Nasta S, Baxter AE, Giles JR, Skelly AN, Felley LE, McLaughlin M, Weaver J; Penn Medicine BioBank; Kuthuru O, Dougherty J, Adamski S, Long S, Kee M, Clendenin C, da Silva Antunes R, Grifoni A, Weiskopf D, Sette A, Huang AC, Rader DJ, Hensley SE, Bates P, Greenplate AR, Wherry EJ. Painter MM, et al. Among authors: rader dj. Nat Immunol. 2023 Oct;24(10):1711-1724. doi: 10.1038/s41590-023-01613-y. Epub 2023 Sep 21. Nat Immunol. 2023. PMID: 37735592
944 results