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Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Ballinger ML, Pattnaik S, Mundra PA, Zaheed M, Rath E, Priestley P, Baber J, Ray-Coquard I, Isambert N, Causeret S, van der Graaf WTA, Puri A, Duffaud F, Le Cesne A, Seddon B, Chandrasekar C, Schiffman JD, Brohl AS, James PA, Kurtz JE, Penel N, Myklebost O, Meza-Zepeda LA, Pickett H, Kansara M, Waddell N, Kondrashova O, Pearson JV, Barbour AP, Li S, Nguyen TL, Fatkin D, Graham RM, Giannoulatou E, Green MJ, Kaplan W, Ravishankar S, Copty J, Powell JE, Cuppen E, van Eijk K, Veldink J, Ahn JH, Kim JE, Randall RL, Tucker K, Judson I, Sarin R, Ludwig T, Genin E, Deleuze JF; French Exome Project Consortium; Haber M, Marshall G, Cairns MJ, Blay JY; International Sarcoma Kindred Study; Thomas DM, Tattersall M, Neuhaus S, Lewis C, Tucker K, Carey-Smith R, Wood D, Porceddu S, Dickinson I, Thorne H, James P, Ray-Coquard I, Blay JY, Cassier P, Le Cesne A, Duffaud F, Penel N, Isambert N, Kurtz JE, Puri A, Sarin R, Ahn JH, Kim JE, Ward I, Judson I, van der Graaf W, Seddon B, Chandrasekar C, Rickar R, Hennig I, Schiffman J, Randall RL, Silvestri A, Zaratzian A, Tayao M, Walwyn K, Niedermayr E, Mang D, Clark R, Thorpe T, MacDonald J, Riddell K, Mar J, Fennelly V, Wicht A, Zielony B, Gallig… See abstract for full author list ➔ Ballinger ML, et al. Among authors: rath e. Science. 2023 Jan 20;379(6629):253-260. doi: 10.1126/science.abj4784. Epub 2023 Jan 19. Science. 2023. PMID: 36656928
Therapeutic implications of germline genetic findings in cancer.
Thavaneswaran S, Rath E, Tucker K, Joshua AM, Hess D, Pinese M, Ballinger ML, Thomas DM. Thavaneswaran S, et al. Among authors: rath e. Nat Rev Clin Oncol. 2019 Jun;16(6):386-396. doi: 10.1038/s41571-019-0179-3. Nat Rev Clin Oncol. 2019. PMID: 30783251 Review.
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M, Lacaze P, Rath EM, Stone A, Brion MJ, Ameur A, Nagpal S, Puttick C, Husson S, Degrave D, Cristina TN, Kahl VFS, Statham AL, Woods RL, McNeil JJ, Riaz M, Barr M, Nelson MR, Reid CM, Murray AM, Shah RC, Wolfe R, Atkins JR, Fitzsimmons C, Cairns HM, Green MJ, Carr VJ, Cowley MJ, Pickett HA, James PA, Powell JE, Kaplan W, Gibson G, Gyllensten U, Cairns MJ, McNamara M, Dinger ME, Thomas DM. Pinese M, et al. Among authors: rath em. Nat Commun. 2020 Jan 23;11(1):435. doi: 10.1038/s41467-019-14079-0. Nat Commun. 2020. PMID: 31974348 Free PMC article.
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing.
Tarr I, Hesselson S, Iismaa SE, Rath E, Monger S, Troup M, Mishra K, Wong CMY, Hsu PC, Junday K, Humphreys DT, Adlam D, Webb TR, Baranowska-Clarke AA, Hamby SE, Carss KJ, Samani NJ, Bax M, McGrath-Cadell L, Kovacic JC, Dunwoodie SL, Fatkin D, Muller DWM, Graham RM, Giannoulatou E. Tarr I, et al. Among authors: rath e. Circ Genom Precis Med. 2022 Aug;15(4):e003527. doi: 10.1161/CIRCGEN.121.003527. Epub 2022 May 18. Circ Genom Precis Med. 2022. PMID: 35583931 Free PMC article.
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.
Johnson R, Otway R, Chin E, Horvat C, Ohanian M, Wilcox JAL, Su Z, Prestes P, Smolnikov A, Soka M, Guo G, Rath E, Chakravorty S, Chrzanowski L, Hayward CS, Keogh AM, Macdonald PS, Giannoulatou E, Chang ACY, Oates EC, Charchar F, Seidman JG, Seidman CE, Hegde M, Fatkin D. Johnson R, et al. Among authors: rath e. Circ Genom Precis Med. 2023 Oct;16(5):421-430. doi: 10.1161/CIRCGEN.123.004221. Epub 2023 Sep 6. Circ Genom Precis Med. 2023. PMID: 37671549 Free article.
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.
Blue GM, Mekel M, Das D, Troup M, Rath E, Ip E, Gudkov M, Perumal G, Harvey RP, Sholler GF, Gecz J, Kirk EP, Liu J, Giannoulatou E, Hong H, Dunwoodie SL, Winlaw DS. Blue GM, et al. Among authors: rath e. Am Heart J. 2022 Feb;244:1-13. doi: 10.1016/j.ahj.2021.10.185. Epub 2021 Oct 17. Am Heart J. 2022. PMID: 34670123 Free article.
251 results