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Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.
Damrauer SM, Chaudhary K, Cho JH, Liang LW, Argulian E, Chan L, Dobbyn A, Guerraty MA, Judy R, Kay J, Kember RL, Levin MG, Saha A, Van Vleck T, Verma SS, Weaver J, Abul-Husn NS, Baras A, Chirinos JA, Drachman B, Kenny EE, Loos RJF, Narula J, Overton J, Reid J, Ritchie M, Sirugo G, Nadkarni G, Rader DJ, Do R. Damrauer SM, et al. Among authors: weaver j. JAMA. 2019 Dec 10;322(22):2191-2202. doi: 10.1001/jama.2019.17935. JAMA. 2019. PMID: 31821430 Free PMC article.
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Park J, Lucas AM, Zhang X, Chaudhary K, Cho JH, Nadkarni G, Dobbyn A, Chittoor G, Josyula NS, Katz N, Breeyear JH, Ahmadmehrabi S, Drivas TG, Chavali VRM, Fasolino M, Sawada H, Daugherty A, Li Y, Zhang C, Bradford Y, Weaver J, Verma A, Judy RL, Kember RL, Overton JD, Reid JG, Ferreira MAR, Li AH, Baras A, LeMaire SA, Shen YH, Naji A, Kaestner KH, Vahedi G, Edwards TL, Chen J, Damrauer SM, Justice AE, Do R, Ritchie MD, Rader DJ. Park J, et al. Among authors: weaver j. Nat Med. 2021 Jan;27(1):66-72. doi: 10.1038/s41591-020-1133-8. Epub 2021 Jan 11. Nat Med. 2021. PMID: 33432171 Free PMC article.
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ, Hausler R, Le AN, Kelly G, Powers J, Ding J, Feld E, Desai H, Morrison C, Doucette A, Gabriel P, Genetics Center R, Judy RL, Weaver J, Kember R, Damrauer SM, Rader DJ, Domchek SM, Narayan V, Schwartz LE, Maxwell KN. Lee DJ, et al. Among authors: weaver j. Eur Urol. 2022 Jun;81(6):559-567. doi: 10.1016/j.eururo.2021.09.029. Epub 2021 Oct 25. Eur Urol. 2022. PMID: 34711450 Free PMC article.
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.
Kanetsky PA, Mitra N, Vardhanabhuti S, Li M, Vaughn DJ, Letrero R, Ciosek SL, Doody DR, Smith LM, Weaver J, Albano A, Chen C, Starr JR, Rader DJ, Godwin AK, Reilly MP, Hakonarson H, Schwartz SM, Nathanson KL. Kanetsky PA, et al. Among authors: weaver j. Nat Genet. 2009 Jul;41(7):811-5. doi: 10.1038/ng.393. Epub 2009 May 31. Nat Genet. 2009. PMID: 19483682 Free PMC article.
A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.
Kanetsky PA, Mitra N, Vardhanabhuti S, Vaughn DJ, Li M, Ciosek SL, Letrero R, D'Andrea K, Vaddi M, Doody DR, Weaver J, Chen C, Starr JR, Håkonarson H, Rader DJ, Godwin AK, Reilly MP, Schwartz SM, Nathanson KL. Kanetsky PA, et al. Among authors: weaver j. Hum Mol Genet. 2011 Aug 1;20(15):3109-17. doi: 10.1093/hmg/ddr207. Epub 2011 May 6. Hum Mol Genet. 2011. PMID: 21551455 Free PMC article.
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Edlund CK, Ekici AB, Fasching PA, Feigelson HS, Flesch-Janys D, Fostira F, Försti A, Fountzilas G, Gerty SM; Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium; Giles GG, Godwin AK, Goodfellow P, Graham N, Greco D, Hamann U, Hankinson SE, Hartmann A, Hein R, Heinz J, Holbrook A, Hoover RN, Hu JJ, Hunter DJ, Ingles SA, Irwanto A, Ivanovich J, John EM, Johnson N, Jukkola-Vuorinen A, Kaaks R, Ko YD, Kolonel LN, Konstantopoulou I, Kosma VM, Kulkarni S, Lambrechts D, Lee AM, Marchand LL, Lesnick T, Liu J, Lindstrom S, Mannermaa A, Margolin S, Martin NG, Miron P, Montgomery GW, Nevanlinna H, Nickels S, Nyante S, Olswold C, Palmer J, Pathak H, Pectasides D, Perou CM, Peto J, Pharoah PD, Pooler LC, Press MF, Pylkäs K, Rebbeck TR, Rodriguez-Gil JL, Rosenberg L, Ross E, Rüd… See abstract for full author list ➔ Haiman CA, et al. Among authors: weaver j. Nat Genet. 2011 Oct 30;43(12):1210-4. doi: 10.1038/ng.985. Nat Genet. 2011. PMID: 22037553 Free PMC article.
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