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2021 6
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Page 1
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
Rahmioglu N, Mortlock S, Ghiasi M, Møller PL, Stefansdottir L, Galarneau G, Turman C, Danning R, Law MH, Sapkota Y, Christofidou P, Skarp S, Giri A, Banasik K, Krassowski M, Lepamets M, Marciniak B, Nõukas M, Perro D, Sliz E, Sobalska-Kwapis M, Thorleifsson G, Topbas-Selcuki NF, Vitonis A, Westergaard D, Arnadottir R, Burgdorf KS, Campbell A, Cheuk CSK, Clementi C, Cook J, De Vivo I, DiVasta A, Dorien O, Donoghue JF, Edwards T, Fontanillas P, Fung JN, Geirsson RT, Girling JE, Harkki P, Harris HR, Healey M, Heikinheimo O, Holdsworth-Carson S, Hostettler IC, Houlden H, Houshdaran S, Irwin JC, Jarvelin MR, Kamatani Y, Kennedy SH, Kepka E, Kettunen J, Kubo M, Kulig B, Kurra V, Laivuori H, Laufer MR, Lindgren CM, MacGregor S, Mangino M, Martin NG, Matalliotaki C, Matalliotakis M, Murray AD, Ndungu A, Nezhat C, Olsen CM, Opoku-Anane J, Padmanabhan S, Paranjpe M, Peters M, Polak G, Porteous DJ, Rabban J, Rexrode KM, Romanowicz H, Saare M, Saavalainen L, Schork AJ, Sen S, Shafrir AL, Siewierska-Górska A, Słomka M, Smith BH, Smolarz B, Szaflik T, Szyłło K, Takahashi A, Terry KL, Tomassetti C, Treloar SA, Vanhie A, Vincent K, Vo KC, Werring DJ, Zeggini E, Zervou MI; DBDS Genomic Consortium;… See abstract for full author list ➔ Rahmioglu N, et al. Nat Genet. 2023 Mar;55(3):423-436. doi: 10.1038/s41588-023-01323-z. Epub 2023 Mar 13. Nat Genet. 2023. PMID: 36914876 Free PMC article.
A cross-disorder dosage sensitivity map of the human genome.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team; Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. Collins RL, et al. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1. Cell. 2022. PMID: 35917817 Free PMC article.
Prospective study design and data analysis in UK Biobank.
Allen NE, Lacey B, Lawlor DA, Pell JP, Gallacher J, Smeeth L, Elliott P, Matthews PM, Lyons RA, Whetton AD, Lucassen A, Hurles ME, Chapman M, Roddam AW, Fitzpatrick NK, Hansell AL, Hardy R, Marioni RE, O'Donnell VB, Williams J, Lindgren CM, Effingham M, Sellors J, Danesh J, Collins R. Allen NE, et al. Sci Transl Med. 2024 Jan 10;16(729):eadf4428. doi: 10.1126/scitranslmed.adf4428. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198570 Free PMC article. Review.
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Babadi M, Fu JM, Lee SK, Smirnov AN, Gauthier LD, Walker M, Benjamin DI, Zhao X, Karczewski KJ, Wong I, Collins RL, Sanchis-Juan A, Brand H, Banks E, Talkowski ME. Babadi M, et al. Nat Genet. 2023 Sep;55(9):1589-1597. doi: 10.1038/s41588-023-01449-0. Epub 2023 Aug 21. Nat Genet. 2023. PMID: 37604963 Free PMC article.
Discovering cellular programs of intrinsic and extrinsic drivers of metabolic traits using LipocyteProfiler.
Laber S, Strobel S, Mercader JM, Dashti H, Dos Santos FRC, Kubitz P, Jackson M, Ainbinder A, Honecker J, Agrawal S, Garborcauskas G, Stirling DR, Leong A, Figueroa K, Sinnott-Armstrong N, Kost-Alimova M, Deodato G, Harney A, Way GP, Saadat A, Harken S, Reibe-Pal S, Ebert H, Zhang Y, Calabuig-Navarro V, McGonagle E, Stefek A, Dupuis J, Cimini BA, Hauner H, Udler MS, Carpenter AE, Florez JC, Lindgren C, Jacobs SBR, Claussnitzer M. Laber S, et al. Cell Genom. 2023 Jun 20;3(7):100346. doi: 10.1016/j.xgen.2023.100346. eCollection 2023 Jul 12. Cell Genom. 2023. PMID: 37492099 Free PMC article.
Decision coaching for people making healthcare decisions.
Jull J, Köpke S, Smith M, Carley M, Finderup J, Rahn AC, Boland L, Dunn S, Dwyer AA, Kasper J, Kienlin SM, Légaré F, Lewis KB, Lyddiatt A, Rutherford C, Zhao J, Rader T, Graham ID, Stacey D. Jull J, et al. Cochrane Database Syst Rev. 2021 Nov 8;11(11):CD013385. doi: 10.1002/14651858.CD013385.pub2. Cochrane Database Syst Rev. 2021. PMID: 34749427 Free PMC article. Review.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148 Free PMC article.
58 results