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Page 1
Genetic regulation of fetal hemoglobin across global populations.
Cato LD, Li R, Lu HY, Yu F, Wissman M, Mkumbe BS, Ekwattanakit S, Deelen P, Mwita L, Sangeda R, Suksangpleng T, Riolueang S, Bronson PG, Paul DS, Kawabata E, Astle WJ, Aguet F, Ardlie K, de Lapuente Portilla AL, Kang G, Zhang Y, Nouraie SM, Gordeuk VR, Gladwin MT, Garrett ME, Ashley-Koch A, Telen MJ, Custer B, Kelly S, Dinardo CL, Sabino EC, Loureiro P, Carneiro-Proietti AB, Maximo C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; BIOS Consortium; Méndez A, Hammerer-Lercher A, Sheehan VA, Weiss MJ, Franke L, Nilsson B, Butterworth AS, Viprakasit V, Nkya S, Sankaran VG. Cato LD, et al. Among authors: nilsson b. medRxiv [Preprint]. 2023 Mar 28:2023.03.24.23287659. doi: 10.1101/2023.03.24.23287659. medRxiv. 2023. PMID: 36993312 Free PMC article. Preprint.
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.
Bao EL, Nandakumar SK, Liao X, Bick AG, Karjalainen J, Tabaka M, Gan OI, Havulinna AS, Kiiskinen TTJ, Lareau CA, de Lapuente Portilla AL, Li B, Emdin C, Codd V, Nelson CP, Walker CJ, Churchhouse C, de la Chapelle A, Klein DE, Nilsson B, Wilson PWF, Cho K, Pyarajan S, Gaziano JM, Samani NJ; FinnGen; 23andMe Research Team; Regev A, Palotie A, Neale BM, Dick JE, Natarajan P, O'Donnell CJ, Daly MJ, Milyavsky M, Kathiresan S, Sankaran VG. Bao EL, et al. Among authors: nilsson b. Nature. 2020 Oct;586(7831):769-775. doi: 10.1038/s41586-020-2786-7. Epub 2020 Oct 14. Nature. 2020. PMID: 33057200 Free PMC article.
Genome-wide association study on 13 167 individuals identifies regulators of blood CD34+cell levels.
Lopez de Lapuente Portilla A, Ekdahl L, Cafaro C, Ali Z, Miharada N, Thorleifsson G, Žemaitis K, Lamarca Arrizabalaga A, Thodberg M, Pertesi M, Dhapola P, Bao E, Niroula A, Bali D, Norddahl G, Ugidos Damboriena N, Sankaran VG, Karlsson G, Thorsteinsdottir U, Larsson J, Stefansson K, Nilsson B. Lopez de Lapuente Portilla A, et al. Among authors: nilsson b. Blood. 2022 Mar 17;139(11):1659-1669. doi: 10.1182/blood.2021013220. Blood. 2022. PMID: 35007327 Free article.
Identification of sequence variants influencing immunoglobulin levels.
Jonsson S, Sveinbjornsson G, de Lapuente Portilla AL, Swaminathan B, Plomp R, Dekkers G, Ajore R, Ali M, Bentlage AEH, Elmér E, Eyjolfsson GI, Gudjonsson SA, Gullberg U, Gylfason A, Halldorsson BV, Hansson M, Holm H, Johansson Å, Johnsson E, Jonasdottir A, Ludviksson BR, Oddsson A, Olafsson I, Olafsson S, Sigurdardottir O, Sigurdsson A, Stefansdottir L, Masson G, Sulem P, Wuhrer M, Wihlborg AK, Thorleifsson G, Gudbjartsson DF, Thorsteinsdottir U, Vidarsson G, Jonsdottir I, Nilsson B, Stefansson K. Jonsson S, et al. Among authors: nilsson b. Nat Genet. 2017 Aug;49(8):1182-1191. doi: 10.1038/ng.3897. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628107
Functional dissection of inherited non-coding variation influencing multiple myeloma risk.
Ajore R, Niroula A, Pertesi M, Cafaro C, Thodberg M, Went M, Bao EL, Duran-Lozano L, Lopez de Lapuente Portilla A, Olafsdottir T, Ugidos-Damboriena N, Magnusson O, Samur M, Lareau CA, Halldorsson GH, Thorleifsson G, Norddahl GL, Gunnarsdottir K, Försti A, Goldschmidt H, Hemminki K, van Rhee F, Kimber S, Sperling AS, Kaiser M, Anderson K, Jonsdottir I, Munshi N, Rafnar T, Waage A, Weinhold N, Thorsteinsdottir U, Sankaran VG, Stefansson K, Houlston R, Nilsson B. Ajore R, et al. Among authors: nilsson b. Nat Commun. 2022 Jan 10;13(1):151. doi: 10.1038/s41467-021-27666-x. Nat Commun. 2022. PMID: 35013207 Free PMC article.
Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk.
Ajore R, Niroula A, Pertesi M, Cafaro C, Thodberg M, Went M, Bao EL, Duran-Lozano L, Lopez de Lapuente Portilla A, Olafsdottir T, Ugidos-Damboriena N, Magnusson O, Samur M, Lareau CA, Halldorsson GH, Thorleifsson G, Norddahl GL, Gunnarsdottir K, Försti A, Goldschmidt H, Hemminki K, van Rhee F, Kimber S, Sperling AS, Kaiser M, Anderson K, Jonsdottir I, Munshi N, Rafnar T, Waage A, Weinhold N, Thorsteinsdottir U, Sankaran VG, Stefansson K, Houlston R, Nilsson B. Ajore R, et al. Among authors: nilsson b. Nat Commun. 2022 Dec 13;13(1):7725. doi: 10.1038/s41467-022-35411-1. Nat Commun. 2022. PMID: 36513657 Free PMC article. No abstract available.
ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing.
Beauchamp EM, Leventhal M, Bernard E, Hoppe ER, Todisco G, Creignou M, Gallì A, Castellano CA, McConkey M, Tarun A, Wong W, Schenone M, Stanclift C, Tanenbaum B, Malolepsza E, Nilsson B, Bick AG, Weinstock JS, Miller M, Niroula A, Dunford A, Taylor-Weiner A, Wood T, Barbera A, Anand S, Psaty BM, Desai P, Cho MH, Johnson AD, Loos R; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; MacArthur DG, Lek M; Exome Aggregation Consortium; Neuberg DS, Lage K, Carr SA, Hellstrom-Lindberg E, Malcovati L, Papaemmanuil E, Stewart C, Getz G, Bradley RK, Jaiswal S, Ebert BL. Beauchamp EM, et al. Among authors: nilsson b. Blood Cancer Discov. 2021 Sep;2(5):500-517. doi: 10.1158/2643-3230.BCD-20-0224. Epub 2021 Jul 14. Blood Cancer Discov. 2021. PMID: 34568833 Free PMC article.
Genetic predisposition for multiple myeloma.
Pertesi M, Went M, Hansson M, Hemminki K, Houlston RS, Nilsson B. Pertesi M, et al. Among authors: nilsson b. Leukemia. 2020 Mar;34(3):697-708. doi: 10.1038/s41375-019-0703-6. Epub 2020 Jan 8. Leukemia. 2020. PMID: 31913320 Review.
2,019 results