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Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.
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
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AliGater: a framework for the development of bioinformatic pipelines for large-scale, high-dimensional cytometry data.
Ekdahl L, Arrizabalaga AL, Ali Z, Cafaro C, de Lapuente Portilla AL, Nilsson B.
Ekdahl L, et al. Among authors: de lapuente portilla al.
Bioinform Adv. 2023 Aug 4;3(1):vbad103. doi: 10.1093/bioadv/vbad103. eCollection 2023.
Bioinform Adv. 2023.
PMID: 37600847
Free PMC article.
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The insertion/deletion polymorphism rs201494641 at ITGA9 influences blood CD34+ cell levels by altering ZNF384 binding.
Cafaro C, Ali Z, Lamarca A, Di Bello DT, Lozano LD, Ekdahl L, Thodberg M, Pertesi M, De Lapuente Portilla AL, Nilsson B.
Cafaro C, et al. Among authors: de lapuente portilla al.
Haematologica. 2024 May 9. doi: 10.3324/haematol.2024.285363. Online ahead of print.
Haematologica. 2024.
PMID: 38721738
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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.
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