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952 results

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Page 1
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E. Lennon NJ, et al. Among authors: martin lj. medRxiv [Preprint]. 2023 Jun 5:2023.05.25.23290535. doi: 10.1101/2023.05.25.23290535. medRxiv. 2023. Update in: Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z PMID: 37333246 Free PMC article. Updated. Preprint.
Engaging Adolescents and Young Adults in Decisions About Return of Genomic Research Results: a mixed-methods longitudinal clinical trial protocol.
Blumling A, McGowan M, Prows C, Childers-Buschle K, Martin L, Lynch J, Dufendach K, Lipstein E, Kovacic MB, Brinkman B, Myers M. Blumling A, et al. Res Sq [Preprint]. 2023 Apr 27:rs.3.rs-2819191. doi: 10.21203/rs.3.rs-2819191/v1. Res Sq. 2023. Update in: BMC Med Inform Decis Mak. 2024 Dec 18;24(1):391. doi: 10.1186/s12911-024-02784-w PMID: 37162875 Free PMC article. Updated. Preprint.
After the Infection: A Survey of Pathogens and Non-communicable Human Disease.
Lape M, Schnell D, Parameswaran S, Ernst K, Salomonis N, Martin LJ, Harnett BM, Kottyan LC, Weirauch MT. Lape M, et al. Among authors: martin lj. medRxiv [Preprint]. 2023 Sep 14:2023.09.14.23295428. doi: 10.1101/2023.09.14.23295428. medRxiv. 2023. PMID: 37745430 Free PMC article. Preprint.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson E, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin LJ, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei WQ, Fullerton SM. Lewis ACF, et al. Among authors: martin lj. Am J Hum Genet. 2024 Jun 6;111(6):999-1005. doi: 10.1016/j.ajhg.2024.04.005. Epub 2024 Apr 29. Am J Hum Genet. 2024. PMID: 38688278 Free PMC article. Review.
Engaging adolescents and young adults in decisions about return of genomic research results: study protocol for a mixed-methods longitudinal clinical trial protocol.
Blumling AA, McGowan ML, Prows CA, Childers-Buschle K, Martin LJ, Lynch JA, Dufendach KR, Lipstein EA, Kovacic MB, Brinkman WB, Myers MF. Blumling AA, et al. Among authors: martin lj. BMC Med Inform Decis Mak. 2024 Dec 18;24(1):391. doi: 10.1186/s12911-024-02784-w. BMC Med Inform Decis Mak. 2024. PMID: 39696322 Free PMC article.
B cell repertoire in children with skin barrier dysfunction supports altered IgE maturation associated with allergic food sensitization.
Gill K, Moore C, Nwogu O, Kroner JW, Chang WC, Stevens ML, Kyzy AB, Biagini JM, Devonshire AL, Kottyan L, Schwartz JT, Assa'ad AH, Martin LJ, Andorf S, Hershey GKK, Roskin KM. Gill K, et al. Among authors: martin lj. bioRxiv [Preprint]. 2023 Feb 3:2023.02.01.526538. doi: 10.1101/2023.02.01.526538. bioRxiv. 2023. PMID: 36778284 Free PMC article. Preprint.
Performance of the Pediatric Asthma Risk Score across Diverse Populations.
Biagini JM, Martin LJ, He H, Bacharier LB, Gebretsadik T, Hartert TV, Jackson DJ, Kim H, Miller RL, Rivera-Spoljaric K, Schauberger EM, Singh AM, Visness CM, Wegienka G, Ownby DR, Gold DR, Martinez FD, Johnson CC, Wright AL, Gern JE, Khurana Hershey GK. Biagini JM, et al. Among authors: martin lj. NEJM Evid. 2023 Oct;2(10):EVIDoa2300026. doi: 10.1056/EVIDoa2300026. Epub 2023 Aug 4. NEJM Evid. 2023. PMID: 38320177
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.
Virolainen SJ, Satish L, Biagini JM, Chaib H, Chang WC, Dexheimer PJ, Dixon MR, Dunn K, Fletcher D, Forney C, Granitto M, Hestand MS, Hurd M, Kauffman K, Lawson L, Martin LJ, Peña LD, Phelan KJ, Shook M, Weirauch MT, Khurana Hershey GK, Kottyan LC. Virolainen SJ, et al. Among authors: martin lj. JCI Insight. 2024 Apr 2;9(9):e178258. doi: 10.1172/jci.insight.178258. JCI Insight. 2024. PMID: 38564302 Free PMC article.
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