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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: de lapuente portilla al. 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.
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: de lapuente portilla al. Nat Genet. 2017 Aug;49(8):1182-1191. doi: 10.1038/ng.3897. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628107
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: de lapuente portilla al. medRxiv [Preprint]. 2023 Mar 28:2023.03.24.23287659. doi: 10.1101/2023.03.24.23287659. medRxiv. 2023. PMID: 36993312 Free PMC article. Preprint.