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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, … See abstract for full author list ➔ Chia R, et al. Among authors: torkamani a. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
The importance of phase information for human genomics.
Tewhey R, Bansal V, Torkamani A, Topol EJ, Schork NJ. Tewhey R, et al. Among authors: torkamani a. Nat Rev Genet. 2011 Mar;12(3):215-23. doi: 10.1038/nrg2950. Epub 2011 Feb 8. Nat Rev Genet. 2011. PMID: 21301473 Free PMC article. Review.
Annotating individual human genomes.
Torkamani A, Scott-Van Zeeland AA, Topol EJ, Schork NJ. Torkamani A, et al. Genomics. 2011 Oct;98(4):233-41. doi: 10.1016/j.ygeno.2011.07.006. Epub 2011 Aug 2. Genomics. 2011. PMID: 21839162 Free PMC article. Review.
Symptom-driven idiopathic disease gene identification.
Molparia B, Pham PH, Torkamani A. Molparia B, et al. Among authors: torkamani a. Genet Med. 2015 Nov;17(11):859-65. doi: 10.1038/gim.2014.202. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590976 Free PMC article.
Digital medical tools and sensors.
Topol EJ, Steinhubl SR, Torkamani A. Topol EJ, et al. Among authors: torkamani a. JAMA. 2015 Jan 27;313(4):353-4. doi: 10.1001/jama.2014.17125. JAMA. 2015. PMID: 25626031 Free PMC article. No abstract available.
A genome sequencing program for novel undiagnosed diseases.
Bloss CS, Zeeland AA, Topol SE, Darst BF, Boeldt DL, Erikson GA, Bethel KJ, Bjork RL, Friedman JR, Hwynn N, Patay BA, Pockros PJ, Scott ER, Simon RA, Williams GW, Schork NJ, Topol EJ, Torkamani A. Bloss CS, et al. Among authors: torkamani a. Genet Med. 2015 Dec;17(12):995-1001. doi: 10.1038/gim.2015.21. Epub 2015 Mar 19. Genet Med. 2015. PMID: 25790160 Free PMC article.
143 results