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Page 1
Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH, Atlason BA, Oskarsson GR, Helgason H, Nielsen HS, Westergaard D, Karjalainen JM, Katrinardottir H, Fridriksdottir R, Jensson BO, Tragante V, Ferkingstad E, Jonsson H, Gudjonsson SA, Beyter D, Moore KHS, Thordardottir HB, Kristmundsdottir S, Stefansson OA, Rantapää-Dahlqvist S, Sonderby IE, Didriksen M, Stridh P, Haavik J, Tryggvadottir L, Frei O, Walters GB, Kockum I, Hjalgrim H, Olafsdottir TA, Selbaek G, Nyegaard M, Erikstrup C, Brodersen T, Saevarsdottir S, Olsson T, Nielsen KR, Haraldsson A, Bruun MT, Hansen TF; DBDS Genomic Consortium; Steingrimsdottir T, Jacobsen RL, Lie RT, Djurovic S, Alfredsson L, Lopez de Lapuente Portilla A, Brunak S, Melsted P, Halldorsson BV, Saemundsdottir J, Magnusson OT, Padyukov L, Banasik K, Rafnar T, Askling J, Klareskog L, Pedersen OB, Masson G, Havdahl A, Nilsson B, Andreassen OA, Daly M, Ostrowski SR, Jonsdottir I, Stefansson H, Holm H, Helgason A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF. Oddsson A, et al. Among authors: lopez de lapuente portilla a. Nat Commun. 2023 Jul 3;14(1):3923. doi: 10.1038/s41467-023-39492-4. Nat Commun. 2023. PMID: 37400429 Free PMC article. No abstract available.
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH, Atlason BA, Oskarsson GR, Helgason H, Nielsen HS, Westergaard D, Karjalainen JM, Katrinardottir H, Fridriksdottir R, Jensson BO, Tragante V, Ferkingstad E, Jonsson H, Gudjonsson SA, Beyter D, Moore KHS, Thordardottir HB, Kristmundsdottir S, Stefansson OA, Rantapää-Dahlqvist S, Sonderby IE, Didriksen M, Stridh P, Haavik J, Tryggvadottir L, Frei O, Walters GB, Kockum I, Hjalgrim H, Olafsdottir TA, Selbaek G, Nyegaard M, Erikstrup C, Brodersen T, Saevarsdottir S, Olsson T, Nielsen KR, Haraldsson A, Bruun MT, Hansen TF; DBDS Genomic Consortium; Steingrimsdottir T, Jacobsen RL, Lie RT, Djurovic S, Alfredsson L, Lopez de Lapuente Portilla A, Brunak S, Melsted P, Halldorsson BV, Saemundsdottir J, Magnusson OT, Padyukov L, Banasik K, Rafnar T, Askling J, Klareskog L, Pedersen OB, Masson G, Havdahl A, Nilsson B, Andreassen OA, Daly M, Ostrowski SR, Jonsdottir I, Stefansson H, Holm H, Helgason A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF. Oddsson A, et al. Among authors: lopez de lapuente portilla a. Nat Commun. 2023 Jun 10;14(1):3453. doi: 10.1038/s41467-023-38951-2. Nat Commun. 2023. PMID: 37301908 Free PMC article.
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.
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: lopez de lapuente portilla a. 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.
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: lopez de lapuente portilla a. Nat Commun. 2022 Jan 10;13(1):151. doi: 10.1038/s41467-021-27666-x. Nat Commun. 2022. PMID: 35013207 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. Blood. 2022 Mar 17;139(11):1659-1669. doi: 10.1182/blood.2021013220. Blood. 2022. PMID: 35007327 Free article.
Author Correction: Germline variants at SOHLH2 influence multiple myeloma risk.
Duran-Lozano L, Thorleifsson G, Lopez de Lapuente Portilla A, Niroula A, Went M, Thodberg M, Pertesi M, Ajore R, Cafaro C, Olason PI, Stefansdottir L, Bragi Walters G, Halldorsson GH, Turesson I, Kaiser MF, Weinhold N, Abildgaard N, Andersen NF, Mellqvist UH, Waage A, Juul-Vangsted A, Thorsteinsdottir U, Hansson M, Houlston R, Rafnar T, Stefansson K, Nilsson B. Duran-Lozano L, et al. Among authors: lopez de lapuente portilla a. Blood Cancer J. 2021 Nov 16;11(11):181. doi: 10.1038/s41408-021-00575-4. Blood Cancer J. 2021. PMID: 34782614 Free PMC article. No abstract available.
Germline variants at SOHLH2 influence multiple myeloma risk.
Duran-Lozano L, Thorleifsson G, Lopez de Lapuente Portilla A, Niroula A, Went M, Thodberg M, Pertesi M, Ajore R, Cafaro C, Olason PI, Stefansdottir L, Bragi Walters G, Halldorsson GH, Turesson I, Kaiser MF, Weinhold N, Abildgaard N, Andersen NF, Mellqvist UH, Waage A, Juul-Vangsted A, Thorsteinsdottir U, Hansson M, Houlston R, Rafnar T, Stefansson K, Nilsson B. Duran-Lozano L, et al. Among authors: lopez de lapuente portilla a. Blood Cancer J. 2021 Apr 19;11(4):76. doi: 10.1038/s41408-021-00468-6. Blood Cancer J. 2021. PMID: 33875642 Free PMC article.
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.
Gómez-Fernández P, Lopez de Lapuente Portilla A, Astobiza I, Mena J, Urtasun A, Altmann V, Matesanz F, Otaegui D, Urcelay E, Antigüedad A, Malhotra S, Montalban X, Castillo-Triviño T, Espino-Paisán L, Aktas O, Buttmann M, Chan A, Fontaine B, Gourraud PA, Hecker M, Hoffjan S, Kubisch C, Kümpfel T, Luessi F, Zettl UK, Zipp F, Alloza I, Comabella M, Lill CM, Vandenbroeck K. Gómez-Fernández P, et al. Among authors: lopez de lapuente portilla a. Cells. 2020 Jan 10;9(1):175. doi: 10.3390/cells9010175. Cells. 2020. PMID: 31936765 Free PMC article.
11 results