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Page 1
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Álvarez Jerez P, et al. Among authors: kachuri l. Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2. Epub 2024 Dec 12. Nat Struct Mol Biol. 2024. PMID: 39668204 Free PMC article.
Unraveling the genetic landscape of susceptibility to multiple primary cancers.
Middha P, Kachuri L, Nierenberg JL, Graff RE, Cavazos TB, Hoffmann TJ, Zhang J, Alexeeff S, Habel L, Corley DA, Van Den Eeden S, Kushi LH, Ziv E, Sakoda LC, Witte JS. Middha P, et al. Among authors: kachuri l. medRxiv [Preprint]. 2024 Oct 30:2024.10.29.24316326. doi: 10.1101/2024.10.29.24316326. medRxiv. 2024. PMID: 39574869 Free PMC article. Preprint.
The PRIMED Consortium: Reducing disparities in polygenic risk assessment.
Kullo IJ, Conomos MP, Nelson SC, Adebamowo SN, Choudhury A, Conti D, Fullerton SM, Gogarten SM, Heavner B, Hornsby WE, Kenny EE, Khan A, Khera AV, Li Y, Martin I, Mercader JM, Ng M, Raffield LM, Reiner A, Rowley R, Schaid D, Stilp A, Wiley K, Wilson R, Witte JS, Natarajan P; Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium. Kullo IJ, et al. Am J Hum Genet. 2024 Dec 5;111(12):2594-2606. doi: 10.1016/j.ajhg.2024.10.010. Epub 2024 Nov 18. Am J Hum Genet. 2024. PMID: 39561770 Free PMC article.
Association of immunoglobulin E levels with glioma risk and survival.
Guerra G, Nakase T, Kachuri L, McCoy L, Hansen HM, Rice T, Wiemels JL, Wiencke JK, Molinaro AM, Wrensch M, Francis SS. Guerra G, et al. Among authors: kachuri l. J Natl Cancer Inst. 2024 Oct 24:djae265. doi: 10.1093/jnci/djae265. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 39447063
Functional germline variants in DNA damage repair pathways are associated with altered survival in adults with glioma treated with temozolomide.
Guerra G, Wendt G, McCoy L, Hansen HM, Kachuri L, Molinaro AM, Rice T, Guan V, Capistrano L, Hsieh A, Kalsi V, Sallee J, Taylor JW, Clarke JL, Rodriguez Almaraz E, Wiencke JK, Eckel-Passow JE, Jenkins RB, Wrensch M, Francis SS. Guerra G, et al. Among authors: kachuri l. medRxiv [Preprint]. 2024 Oct 10:2023.10.13.23296963. doi: 10.1101/2023.10.13.23296963. medRxiv. 2024. PMID: 39417102 Free PMC article. Preprint.
Genome-wide polygenic risk scores predict risk of glioma and molecular subtypes.
Nakase T, Guerra GA, Ostrom QT, Ge T, Melin BS, Wrensch M, Wiencke JK, Jenkins RB, Eckel-Passow JE; Glioma International Case-Control Study (GICC); Bondy ML, Francis SS, Kachuri L. Nakase T, et al. Among authors: kachuri l. Neuro Oncol. 2024 Oct 3;26(10):1933-1944. doi: 10.1093/neuonc/noae112. Neuro Oncol. 2024. PMID: 38916140
73 results