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Large-scale rare variant burden testing in Parkinson's disease.
Makarious MB, Lake J, Pitz V, Ye Fu A, Guidubaldi JL, Solsberg CW, Bandres-Ciga S, Leonard HL, Kim JJ, Billingsley KJ, Grenn FP, Jerez PA, Alvarado CX, Iwaki H, Ta M, Vitale D, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC),; Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Real R, Morris HR, Ding J, Gibbs JR, Singleton AB, Nalls MA, Bhangale T, Blauwendraat C. Makarious MB, et al. Among authors: torkamani a. Brain. 2023 Nov 2;146(11):4622-4632. doi: 10.1093/brain/awad214. Brain. 2023. PMID: 37348876 Free PMC article.
Identification of ALK as a major familial neuroblastoma predisposition gene.
Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM. Mossé YP, et al. Among authors: torkamani a. Nature. 2008 Oct 16;455(7215):930-5. doi: 10.1038/nature07261. Epub 2008 Aug 24. Nature. 2008. PMID: 18724359 Free PMC article.
Altered DNA methylation in leukocytes with trisomy 21.
Kerkel K, Schupf N, Hatta K, Pang D, Salas M, Kratz A, Minden M, Murty V, Zigman WB, Mayeux RP, Jenkins EC, Torkamani A, Schork NJ, Silverman W, Croy BA, Tycko B. Kerkel K, et al. Among authors: torkamani a. PLoS Genet. 2010 Nov 18;6(11):e1001212. doi: 10.1371/journal.pgen.1001212. PLoS Genet. 2010. PMID: 21124956 Free PMC article.
Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis.
Sieberts SK, Zhu F, García-García J, Stahl E, Pratap A, Pandey G, Pappas D, Aguilar D, Anton B, Bonet J, Eksi R, Fornés O, Guney E, Li H, Marín MA, Panwar B, Planas-Iglesias J, Poglayen D, Cui J, Falcao AO, Suver C, Hoff B, Balagurusamy VSK, Dillenberger D, Neto EC, Norman T, Aittokallio T, Ammad-Ud-Din M, Azencott CA, Bellón V, Boeva V, Bunte K, Chheda H, Cheng L, Corander J, Dumontier M, Goldenberg A, Gopalacharyulu P, Hajiloo M, Hidru D, Jaiswal A, Kaski S, Khalfaoui B, Khan SA, Kramer ER, Marttinen P, Mezlini AM, Molparia B, Pirinen M, Saarela J, Samwald M, Stoven V, Tang H, Tang J, Torkamani A, Vert JP, Wang B, Wang T, Wennerberg K, Wineinger NE, Xiao G, Xie Y, Yeung R, Zhan X, Zhao C; Members of the Rheumatoid Arthritis Challenge Consortium; Greenberg J, Kremer J, Michaud K, Barton A, Coenen M, Mariette X, Miceli C, Shadick N, Weinblatt M, de Vries N, Tak PP, Gerlag D, Huizinga TWJ, Kurreeman F, Allaart CF, Louis Bridges S Jr, Criswell L, Moreland L, Klareskog L, Saevarsdottir S, Padyukov L, Gregersen PK, Friend S, Plenge R, Stolovitzky G, Oliva B, Guan Y, Mangravite LM. Sieberts SK, et al. Among authors: torkamani a. Nat Commun. 2016 Aug 23;7:12460. doi: 10.1038/ncomms12460. Nat Commun. 2016. PMID: 27549343 Free PMC article.
The promise of digital healthcare technologies.
Yeung AWK, Torkamani A, Butte AJ, Glicksberg BS, Schuller B, Rodriguez B, Ting DSW, Bates D, Schaden E, Peng H, Willschke H, van der Laak J, Car J, Rahimi K, Celi LA, Banach M, Kletecka-Pulker M, Kimberger O, Eils R, Islam SMS, Wong ST, Wong TY, Gao W, Brunak S, Atanasov AG. Yeung AWK, et al. Among authors: torkamani a. Front Public Health. 2023 Sep 26;11:1196596. doi: 10.3389/fpubh.2023.1196596. eCollection 2023. Front Public Health. 2023. PMID: 37822534 Free PMC article. Review.
Directed remodeling of the mouse gut microbiome inhibits the development of atherosclerosis.
Chen PB, Black AS, Sobel AL, Zhao Y, Mukherjee P, Molparia B, Moore NE, Aleman Muench GR, Wu J, Chen W, Pinto AFM, Maryanoff BE, Saghatelian A, Soroosh P, Torkamani A, Leman LJ, Ghadiri MR. Chen PB, et al. Among authors: torkamani a. Nat Biotechnol. 2020 Nov;38(11):1288-1297. doi: 10.1038/s41587-020-0549-5. Epub 2020 Jun 15. Nat Biotechnol. 2020. PMID: 32541956 Free PMC article.
144 results