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942 results

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Page 1
Genotype imputation and polygenic score estimation in northwestern Russian population.
Kolosov N, Rezapova V, Rotar O, Loboda A, Freylikhman O, Melnik O, Sergushichev A, Stevens C, Voortman T, Kostareva A, Konradi A, Daly MJ, Artomov M. Kolosov N, et al. Among authors: daly mj. PLoS One. 2022 Jun 28;17(6):e0269434. doi: 10.1371/journal.pone.0269434. eCollection 2022. PLoS One. 2022. PMID: 35763490 Free PMC article.
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Neale BM, et al. Among authors: daly mj. Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011. Nature. 2012. PMID: 22495311 Free PMC article.
zCall: a rare variant caller for array-based genotyping: genetics and population analysis.
Goldstein JI, Crenshaw A, Carey J, Grant GB, Maguire J, Fromer M, O'Dushlaine C, Moran JL, Chambert K, Stevens C; Swedish Schizophrenia Consortium; ARRA Autism Sequencing Consortium; Sklar P, Hultman CM, Purcell S, McCarroll SA, Sullivan PF, Daly MJ, Neale BM. Goldstein JI, et al. Among authors: daly mj. Bioinformatics. 2012 Oct 1;28(19):2543-5. doi: 10.1093/bioinformatics/bts479. Epub 2012 Jul 27. Bioinformatics. 2012. PMID: 22843986 Free PMC article.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J; iPSYCH-Broad Autism Group; Psychiatric Genomics Consortium Autism Group; Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB. Weiner DJ, et al. Among authors: daly mj. Nat Genet. 2017 Jul;49(7):978-985. doi: 10.1038/ng.3863. Epub 2017 May 15. Nat Genet. 2017. PMID: 28504703 Free PMC article.
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.
Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Daniela Robles-Espinoza C, Sankar A, Njauw CN, Shannon K, Gragoudas ES, Marie Lane A, Iyer V, Newton-Bishop JA, Timothy Bishop D, Holland EA, Mann GJ, Singh T, Daly MJ, Tsao H. Artomov M, et al. Among authors: daly mj. J Natl Cancer Inst. 2017 Dec 1;109(12):djx083. doi: 10.1093/jnci/djx083. J Natl Cancer Inst. 2017. PMID: 29522175 Free PMC article.
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.
Martin AR, Karczewski KJ, Kerminen S, Kurki MI, Sarin AP, Artomov M, Eriksson JG, Esko T, Genovese G, Havulinna AS, Kaprio J, Konradi A, Korányi L, Kostareva A, Männikkö M, Metspalu A, Perola M, Prasad RB, Raitakari O, Rotar O, Salomaa V, Groop L, Palotie A, Neale BM, Ripatti S, Pirinen M, Daly MJ. Martin AR, et al. Among authors: daly mj. Am J Hum Genet. 2018 May 3;102(5):760-775. doi: 10.1016/j.ajhg.2018.03.003. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706349 Free PMC article.
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium; Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ. Rivas MA, et al. Among authors: daly mj. PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May. PLoS Genet. 2018. PMID: 29795570 Free PMC article.
942 results