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Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: thomas bp. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
The ExAC browser: displaying reference data information from over 60 000 exomes.
Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM, Kavanagh D, Hamamsy T, Lek M, Samocha KE, Cummings BB, Birnbaum D; The Exome Aggregation Consortium; Daly MJ, MacArthur DG. Karczewski KJ, et al. Among authors: thomas b. Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845. doi: 10.1093/nar/gkw971. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899611 Free PMC article.
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF. Ilkovski B, et al. Among authors: thomas b. Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20. Hum Mol Genet. 2015. PMID: 26293662 Free PMC article.
Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.
Kasippillai T, MacArthur DG, Kirby A, Thomas B, Lambalk CB, Daly MJ, Welt CK. Kasippillai T, et al. Among authors: thomas b. J Clin Endocrinol Metab. 2013 Sep;98(9):E1534-9. doi: 10.1210/jc.2013-1102. Epub 2013 Jul 31. J Clin Endocrinol Metab. 2013. PMID: 23902945 Free PMC article.
Early Injury Landscape in Vein Harvest by Single-Cell and Spatial Transcriptomics.
Michaud ME, Mota L, Bakhtiari M, Thomas BE, Tomeo J, Pilcher W, Contreras M, Ferran C, Bhasin S, Pradhan-Nabzdyk L, LoGerfo FW, Liang P, Bhasin MK. Michaud ME, et al. Among authors: thomas be. Circ Res. 2024 May 29. doi: 10.1161/CIRCRESAHA.123.323939. Online ahead of print. Circ Res. 2024. PMID: 38808504
A single-cell atlas characterizes dysregulation of the bone marrow immune microenvironment associated with outcomes in multiple myeloma.
Pilcher WC, Yao L, Gonzalez-Kozlova E, Pita-Juarez Y, Karagkouni D, Acharya CR, Michaud ME, Hamilton M, Nanda S, Song Y, Sato K, Wang JT, Satpathy S, Ma Y, Schulman J, D'Souza D, Jayasinghe RG, Cheloni G, Bakhtiari M, Pabustan N, Nie K, Foltz JA, Saldarriaga I, Alaaeldin R, Lepisto E, Chen R, Fiala MA, Thomas BE, Cook A, Dos Santos JV, Chiang IL, Figueiredo I, Fortier J, Slade M, Oh ST, Rettig MP, Anderson E, Li Y, Dasari S, Strausbauch MA, Simon VA; Immune Atlas Consortium; Rahman AH, Chen Z, Lagana A, DiPersio JF, Rosenblatt J, Kim-Schulze S, Dhodapkar MV, Lonial S, Kumar S, Bhasin SS, Kourelis T, Vij R, Avigan D, Cho HJ, Mulligan G, Ding L, Gnjatic S, Vlachos IS, Bhasin M. Pilcher WC, et al. Among authors: thomas be. bioRxiv [Preprint]. 2024 May 17:2024.05.15.593193. doi: 10.1101/2024.05.15.593193. bioRxiv. 2024. PMID: 38798338 Free PMC article. Preprint.
3,973 results