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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 5
2003 8
2004 6
2005 6
2006 9
2007 4
2008 5
2009 5
2010 3
2011 3
2012 4
2013 9
2014 16
2015 17
2016 27
2017 28
2018 18
2019 13
2020 26
2021 26
2022 11
2023 11
2024 4

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242 results

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Page 1
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
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.
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
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
Estimated Glomerular Filtration Rate, Albuminuria, and Adverse Outcomes: An Individual-Participant Data Meta-Analysis.
Writing Group for the CKD Prognosis Consortium; Grams ME, Coresh J, Matsushita K, Ballew SH, Sang Y, Surapaneni A, Alencar de Pinho N, Anderson A, Appel LJ, Ärnlöv J, Azizi F, Bansal N, Bell S, Bilo HJG, Brunskill NJ, Carrero JJ, Chadban S, Chalmers J, Chen J, Ciemins E, Cirillo M, Ebert N, Evans M, Ferreiro A, Fu EL, Fukagawa M, Green JA, Gutierrez OM, Herrington WG, Hwang SJ, Inker LA, Iseki K, Jafar T, Jassal SK, Jha V, Kadota A, Katz R, Köttgen A, Konta T, Kronenberg F, Lee BJ, Lees J, Levin A, Looker HC, Major R, Melzer Cohen C, Mieno M, Miyazaki M, Moranne O, Muraki I, Naimark D, Nitsch D, Oh W, Pena M, Purnell TS, Sabanayagam C, Satoh M, Sawhney S, Schaeffner E, Schöttker B, Shen JI, Shlipak MG, Sinha S, Stengel B, Sumida K, Tonelli M, Valdivielso JM, van Zuilen AD, Visseren FLJ, Wang AY, Wen CP, Wheeler DC, Yatsuya H, Yamagata K, Yang JW, Young A, Zhang H, Zhang L, Levey AS, Gansevoort RT. Writing Group for the CKD Prognosis Consortium, et al. JAMA. 2023 Oct 3;330(13):1266-1277. doi: 10.1001/jama.2023.17002. JAMA. 2023. PMID: 37787795 Free PMC article.
Genetic insights into resting heart rate and its role in cardiovascular disease.
van de Vegte YJ, Eppinga RN, van der Ende MY, Hagemeijer YP, Mahendran Y, Salfati E, Smith AV, Tan VY, Arking DE, Ntalla I, Appel EV, Schurmann C, Brody JA, Rueedi R, Polasek O, Sveinbjornsson G, Lecoeur C, Ladenvall C, Zhao JH, Isaacs A, Wang L, Luan J, Hwang SJ, Mononen N, Auro K, Jackson AU, Bielak LF, Zeng L, Shah N, Nethander M, Campbell A, Rankinen T, Pechlivanis S, Qi L, Zhao W, Rizzi F, Tanaka T, Robino A, Cocca M, Lange L, Müller-Nurasyid M, Roselli C, Zhang W, Kleber ME, Guo X, Lin HJ, Pavani F, Galesloot TE, Noordam R, Milaneschi Y, Schraut KE, den Hoed M, Degenhardt F, Trompet S, van den Berg ME, Pistis G, Tham YC, Weiss S, Sim XS, Li HL, van der Most PJ, Nolte IM, Lyytikäinen LP, Said MA, Witte DR, Iribarren C, Launer L, Ring SM, de Vries PS, Sever P, Linneberg A, Bottinger EP, Padmanabhan S, Psaty BM, Sotoodehnia N, Kolcic I; DCCT/EDIC Research Group; Arnar DO, Gudbjartsson DF, Holm H, Balkau B, Silva CT, Newton-Cheh CH, Nikus K, Salo P, Mohlke KL, Peyser PA, Schunkert H, Lorentzon M, Lahti J, Rao DC, Cornelis MC, Faul JD, Smith JA, Stolarz-Skrzypek K, Bandinelli S, Concas MP, Sinagra G, Meitinger T, Waldenberger M, Sinner MF, Strauch K, Delgado GE, Taylor KD,… See abstract for full author list ➔ van de Vegte YJ, et al. Among authors: bottinger ep. Nat Commun. 2023 Aug 2;14(1):4646. doi: 10.1038/s41467-023-39521-2. Nat Commun. 2023. PMID: 37532724 Free PMC article.
Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH.
Li JH, Brenner LN, Kaur V, Figueroa K, Schroeder P, Huerta-Chagoya A; MAGIC Investigators; Diabetes Prevention Program (DPP) Research Group; Udler MS, Leong A, Mercader JM, Florez JC. Li JH, et al. Diabetologia. 2023 Jul;66(7):1260-1272. doi: 10.1007/s00125-023-05922-7. Epub 2023 May 26. Diabetologia. 2023. PMID: 37233759 Free PMC article.
A machine learning approach to determine resilience utilizing wearable device data: analysis of an observational cohort.
Hirten RP, Suprun M, Danieletto M, Zweig M, Golden E, Pyzik R, Kaur S, Helmus D, Biello A, Landell K, Rodrigues J, Bottinger EP, Keefer L, Charney D, Nadkarni GN, Suarez-Farinas M, Fayad ZA. Hirten RP, et al. Among authors: bottinger ep. JAMIA Open. 2023 May 2;6(2):ooad029. doi: 10.1093/jamiaopen/ooad029. eCollection 2023 Jul. JAMIA Open. 2023. PMID: 37143859 Free PMC article.
242 results