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Aitzkoa Lopez de Lapuente Portilla
Aitzkoa Lopez de Lapuente Portilla
Lund University
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Year
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
EL Bao, SK Nandakumar, X Liao, AG Bick, J Karjalainen, M Tabaka, ...
Nature 586 (7831), 769-775, 2020
1052020
Identification of sequence variants influencing immunoglobulin levels
S Jonsson, G Sveinbjornsson, AL de Lapuente Portilla, B Swaminathan, ...
Nature genetics 49 (8), 1182-1191, 2017
932017
MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis
International Multiple Sclerosis Genetics Consortium
Brain 136 (6), 1778-1782, 2013
682013
ANKRD55 and DHCR7 are novel multiple sclerosis risk loci
I Alloza, D Otaegui, AL De Lapuente, A Antigüedad, J Varadé, C Núñez, ...
Genes & Immunity 13 (3), 253-257, 2012
602012
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
CM Lill, T Liu, BMM Schjeide, JT Roehr, DA Akkad, V Damotte, A Alcina, ...
Journal of medical genetics 49 (9), 558-562, 2012
412012
Novel insights into the multiple sclerosis risk gene ANKRD55
A Lopez de Lapuente, A Feliú, N Ugidos, M Mecha, J Mena, I Astobiza, ...
The Journal of Immunology 196 (11), 4553-4565, 2016
282016
Functional dissection of inherited non-coding variation influencing multiple myeloma risk
R Ajore, A Niroula, M Pertesi, C Cafaro, M Thodberg, M Went, EL Bao, ...
nature communications 13 (1), 151, 2022
162022
Cell-specific effects in different immune subsets associated with SOCS1 genotypes in multiple sclerosis
A Lopez de Lapuente, MJ Pinto-Medel, I Astobiza, I Alloza, M Comabella, ...
Multiple Sclerosis Journal 21 (12), 1498-1512, 2015
132015
Germline variants at SOHLH2 influence multiple myeloma risk
L Duran-Lozano, G Thorleifsson, A Lopez de Lapuente Portilla, A Niroula, ...
Blood Cancer Journal 11 (4), 76, 2021
82021
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
A Oddsson, P Sulem, G Sveinbjornsson, GA Arnadottir, V Steinthorsdottir, ...
nature communications 14 (1), 3453, 2023
72023
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
P Gómez-Fernández, A Lopez de Lapuente Portilla, I Astobiza, J Mena, ...
Cells 9 (1), 175, 2020
62020
Genome-wide association study on 13 167 individuals identifies regulators of blood CD34+cell levels
A Lopez de Lapuente Portilla, L Ekdahl, C Cafaro, Z Ali, N Miharada, ...
Blood, The Journal of the American Society of Hematology 139 (11), 1659-1669, 2022
5*2022
Genetic regulation of fetal hemoglobin across global populations
LD Cato, R Li, HY Lu, F Yu, M Wissman, BS Mkumbe, S Ekwattanakit, ...
medRxiv, 2023
12023
Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology
EL Bao, SK Nandakumar, X Liao, A Bick, J Karjalainen, M Tabaka, OI Gan, ...
bioRxiv, 790626, 2019
12019
The insertion/deletion polymorphism rs201494641 at ITGA9 influences blood CD34+ cell levels by altering ZNF384 binding
C Cafaro, Z Ali, A Lamarca, DT Di Bello, LD Lozano, L Ekdahl, ...
Haematologica, 2024
2024
Genome-wide association study on 13 167 individuals identifies regulators of blood CD34+ cell levels (vol 141, pg 962, 2023)
A Portilla, L de Lapuente, L Ekdahl, C Cafaro
BLOOD 141 (8), 962-962, 2023
2023
AliGater: a framework for the development of bioinformatic pipelines for large-scale, high-dimensional cytometry data
L Ekdahl, AL Arrizabalaga, Z Ali, C Cafaro, AL de Lapuente Portilla, ...
Bioinformatics Advances 3 (1), vbad103, 2023
2023
Author Correction: Germline variants at SOHLH2 influence multiple myeloma risk
L Duran-Lozano, G Thorleifsson, A Lopez de Lapuente Portilla, A Niroula, ...
Blood Cancer Journal 11 (11), 181, 2021
2021
Genome-wide association study on 13,167 individuals identifies regulators of hematopoietic stem and progenitor cell levels in human blood
AL de Lapuente Portilla, L Ekdahl, C Cafaro, Z Ali, N Miharada, ...
2021
Identification of regulators of hematopoietic stem and progenitor cells in vivo in humans using population genetics
A Portilla, L de Lapuente, L Ekhdal, C Cafaro, Z Ali, G Thorleifsson, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 108-109, 2020
2020
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