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Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves cross-ancestry prediction.
Hoffmann TJ, Graff RE, Madduri RK, Rodriguez AA, Cario CL, Feng K, Jiang Y, Wang A, Klein RJ, Pierce BL, Eggener S, Tong L, Blot W, Long J, Goss LB, Darst BF, Rebbeck T, Lachance J, Andrews C, Adebiyi AO, Adusei B, Aisuodionoe-Shadrach OI, Fernandez PW, Jalloh M, Janivara R, Chen WC, Mensah JE, Agalliu I, Berndt SI, Shelley JP, Schaffer K, Machiela MJ, Freedman ND, Huang WY, Li SA, Goodman PJ, Till C, Thompson I, Lilja H, Ranatunga DK, Presti J, Van Den Eeden SK, Chanock SJ, Mosley JD, Conti DV, Haiman CA, Justice AC, Kachuri L, Witte JS. Hoffmann TJ, et al. Among authors: machiela mj. medRxiv [Preprint]. 2024 Aug 20:2023.10.27.23297676. doi: 10.1101/2023.10.27.23297676. medRxiv. 2024. PMID: 37961155 Free PMC article. Preprint.
Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization.
Clavero E, Sanchez-Maldonado JM, Macauda A, Ter Horst R, Sampaio-Marques B, Jurczyszyn A, Clay-Gilmour A, Stein A, Hildebrandt MAT, Weinhold N, Buda G, García-Sanz R, Tomczak W, Vogel U, Jerez A, Zawirska D, Wątek M, Hofmann JN, Landi S, Spinelli JJ, Butrym A, Kumar A, Martínez-López J, Galimberti S, Sarasquete ME, Subocz E, Iskierka-Jażdżewska E, Giles GG, Rybicka-Ramos M, Kruszewski M, Abildgaard N, Verdejo FG, Sánchez Rovira P, da Silva Filho MI, Kadar K, Razny M, Cozen W, Pelosini M, Jurado M, Bhatti P, Dudzinski M, Druzd-Sitek A, Orciuolo E, Li Y, Norman AD, Zaucha JM, Reis RM, Markiewicz M, Rodríguez Sevilla JJ, Andersen V, Jamroziak K, Hemminki K, Berndt SI, Rajkumar V, Mazur G, Kumar SK, Ludovico P, Nagler A, Chanock SJ, Dumontet C, Machiela MJ, Varkonyi J, Camp NJ, Ziv E, Vangsted AJ, Brown EE, Campa D, Vachon CM, Netea MG, Canzian F, Försti A, Sainz J. Clavero E, et al. Among authors: machiela mj. Int J Mol Sci. 2023 May 9;24(10):8500. doi: 10.3390/ijms24108500. Int J Mol Sci. 2023. PMID: 37239846 Free PMC article.
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.
Lee OW, Rodrigues C, Lin SH, Luo W, Jones K, Brown DW, Zhou W, Karlins E, Khan SM, Baulande S, Raynal V, Surdez D, Reynaud S, Rubio RA, Zaidi S, Grossetête S, Ballet S, Lapouble E, Laurence V, Pierron G, Gaspar N, Corradini N, Marec-Bérard P, Rothman N, Dagnall CL, Burdett L, Manning M, Wyatt K, Yeager M, Chari R, Leisenring WM, Kulozik AE, Kriebel J, Meitinger T, Strauch K, Kirchner T, Dirksen U, Mirabello L, Tucker MA, Tirode F, Armstrong GT, Bhatia S, Robison LL, Yasui Y, Romero-Pérez L, Hartmann W, Metzler M, Diver WR, Lori A, Freedman ND, Hoover RN, Morton LM, Chanock SJ, Grünewald TGP, Delattre O, Machiela MJ. Lee OW, et al. Among authors: machiela mj. Am J Hum Genet. 2023 Mar 2;110(3):427-441. doi: 10.1016/j.ajhg.2023.01.017. Epub 2023 Feb 13. Am J Hum Genet. 2023. PMID: 36787739 Free PMC article.
ArCH: improving the performance of clonal hematopoiesis variant calling and interpretation.
Chan ICC, Panchot A, Schmidt E, McNulty S, Wiley BJ, Liu J, Turner K, Moukarzel L, Wong WSW, Tran D, Beeler JS, Batchi-Bouyou AL, Machiela MJ, Karyadi DM, Krajacich BJ, Zhao J, Kruglyak S, Lajoie B, Levy S, Patel M, Kantoff PW, Mason CE, Link DC, Druley TE, Stopsack KH, Bolton KL. Chan ICC, et al. Among authors: machiela mj. Bioinformatics. 2024 Mar 29;40(4):btae121. doi: 10.1093/bioinformatics/btae121. Bioinformatics. 2024. PMID: 38485690 Free PMC article.
JAK2 V617F mutation and associated chromosomal alterations in primary and secondary myelofibrosis and post-HCT outcomes.
Rafati M, Brown DW, Zhou W, Jones K, Luo W, St Martin A, Wang Y, He M, Spellman SR, Wang T, Deeg HJ, Gupta V, Lee SJ, Bolon YT, Chanock SJ, Machiela MJ, Saber W, Gadalla SM. Rafati M, et al. Among authors: machiela mj. Blood Adv. 2023 Dec 26;7(24):7506-7515. doi: 10.1182/bloodadvances.2023010882. Blood Adv. 2023. PMID: 38011490 Free PMC article.
Shared and distinct genetic etiologies for different types of clonal hematopoiesis.
Brown DW, Cato LD, Zhao Y, Nandakumar SK, Bao EL, Gardner EJ, Hubbard AK, DePaulis A, Rehling T, Song L, Yu K, Chanock SJ, Perry JRB, Sankaran VG, Machiela MJ. Brown DW, et al. Among authors: machiela mj. Nat Commun. 2023 Sep 8;14(1):5536. doi: 10.1038/s41467-023-41315-5. Nat Commun. 2023. PMID: 37684235 Free PMC article.
142 results