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Page 1
Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY.
Mansouri L, Thorvaldsdottir B, Sutton LA, Karakatsoulis G, Meggendorfer M, Parker H, Nadeu F, Brieghel C, Laidou S, Moia R, Rossi D, Catherwood M, Kotaskova J, Delgado J, Rodríguez-Vicente AE, Benito R, Rigolin GM, Bonfiglio S, Scarfo L, Mattsson M, Davis Z, Gogia A, Rani L, Baliakas P, Foroughi-Asl H, Jylhä C, Skaftason A, Rapado I, Miras F, Martinez-Lopez J, de la Serna J, Rivas JMH, Thornton P, Larráyoz MJ, Calasanz MJ, Fésüs V, Mátrai Z, Bödör C, Smedby KE, Espinet B, Puiggros A, Gupta R, Bullinger L, Bosch F, Tazón-Vega B, Baran-Marszak F, Oscier D, Nguyen-Khac F, Zenz T, Terol MJ, Cuneo A, Hernández-Sánchez M, Pospisilova S, Mills K, Gaidano G, Niemann CU, Campo E, Strefford JC, Ghia P, Stamatopoulos K, Rosenquist R. Mansouri L, et al. Among authors: skaftason a. Leukemia. 2023 Feb;37(2):339-347. doi: 10.1038/s41375-022-01802-y. Epub 2022 Dec 24. Leukemia. 2023. PMID: 36566271 Free PMC article.
Whole-genome sequencing of 490,640 UK Biobank participants.
UK Biobank Whole-Genome Sequencing Consortium. UK Biobank Whole-Genome Sequencing Consortium. Nature. 2025 Sep;645(8081):692-701. doi: 10.1038/s41586-025-09272-9. Epub 2025 Aug 6. Nature. 2025. PMID: 40770095 Free PMC article.
The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.
Hägerstrand D, Oder B, Cortese D, Qu Y, Binzer-Panchal A, Österholm C, Del Peso Santos T, Rabbani L, Asl HF, Skaftason A, Ljungström V, Lundholm A, Koutroumani M, Haider Z, Jylhä C, Mollstedt J, Mansouri L, Plevova K, Agathangelidis A, Scarfò L, Armand M, Muggen AF, Kay NE, Shanafelt T, Rossi D, Orre LM, Pospisilova S, Barylyuk K, Davi F, Vesterlund M, Langerak AW, Lehtiö J, Ghia P, Stamatopoulos K, Sutton LA, Rosenquist R. Hägerstrand D, et al. Among authors: skaftason a. Leukemia. 2024 Nov;38(11):2429-2442. doi: 10.1038/s41375-024-02379-4. Epub 2024 Sep 11. Leukemia. 2024. PMID: 39261602 Free PMC article.
Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms.
Nadeu F, Shuai S, Clot G, Hilton LK, Diaz-Navarro A, Martín S, Royo R, Baumann T, Kulis M, López-Oreja I, Cossio M, Lu J, Ljungström V, Young E, Plevova K, Knisbacher BA, Lin Z, Hahn CK, Bousquets P, Alcoceba M, González M, Colado E, Payer ÁR, Aymerich M, Terol MJ, Rivas-Delgado A, Enjuanes A, Ruiz-Gaspà S, Chatzikonstantinou T, Hägerstrand D, Jylhä C, Skaftason A, Mansouri L, Stranska K, Doubek M, van Gastel-Mol EJ, Davis Z, Walewska R, Scarfò L, Trentin L, Visentin A, Parikh SA, Rabe KG, Moia R, Armand M, Rossi D, Davi F, Gaidano G, Kay NE, Shanafelt TD, Ghia P, Oscier D, Langerak AW, Beà S, López-Guillermo A, Neuberg D, Wu CJ, Getz G, Pospisilova S, Stamatopoulos K, Rosenquist R, Huber W, Zenz T, Colomer D, Martín-Subero JI, Delgado J, Morin RD, Stein LD, Puente XS, Campo E. Nadeu F, et al. Among authors: skaftason a. Leukemia. 2025 Sep;39(9):2076-2086. doi: 10.1038/s41375-025-02667-7. Epub 2025 Jun 30. Leukemia. 2025. PMID: 40588565 Free PMC article.
Missense variants in FRS3 affect body mass index in populations of diverse ancestries.
Jonsdottir AB, Sveinbjornsson G, Thorolfsdottir RB, Tamlander M, Tragante V, Olafsdottir T, Rognvaldsson S, Sigurdsson A, Eggertsson HP, Aegisdottir HM, Arnar DO, Banasik K, Beyter D, Bjarnason RG, Bjornsdottir G, Brunak S, Topholm Bruun M, Dowsett J, Einarsson E, Einarsson G, Erikstrup C, Fridriksdottir R, Ghouse J, Gretarsdottir S, Halldorsson GH, Hansen T, Helgadottir A, Holm PC, Ivarsdottir EV, Iversen KK, Jensen BA, Jonsdottir I, Knight S, Knowlton KU, Kristmundsdottir S, Larusdottir AE, Magnusson OT, Masson G, Melsted P, Mikkelsen C, Moore KHS, Oddsson A, Olason PI, Palsson F, Pedersen OB, Schwinn M, Sigurdsson EL, Skaftason A, Stefansdottir L, Stefansson H, Steingrimsdottir T, Sturluson A, Styrkarsdottir U, Sørensen E, Teitsdottir UD, Thorgeirsson TE, Thorisson GA, Thorsteinsdottir U, Ulfarsson MO, Ullum H, Vikingsson A, Walters GB; DBDS Genomic Consortium; Nadauld LD, Bundgaard H, Ostrowski SR, Helgason A, Halldorsson BV, Norddahl GL, Ripatti S, Gudbjartsson DF, Thorleifsson G, Steinthorsdottir V, Holm H, Sulem P, Stefansson K. Jonsdottir AB, et al. Among authors: skaftason a. Nat Commun. 2025 Mar 25;16(1):2694. doi: 10.1038/s41467-025-57753-2. Nat Commun. 2025. PMID: 40133257 Free PMC article.
Combinatorial DNMTs and EZH2 inhibition reprograms the H3K27me3 and DNAme-mediated onco-epigenome to suppress multiple myeloma proliferation.
Atienza Párraga A, Nylund P, Diamanti K, Garrido-Zabala B, Tziola SI, Vasquez L, Pyl PT, Raykova D, Skaftason A, Ma A, Jin J, Martín-Subero JI, Öberg F, De Bruyne E, Komorowski J, Jernberg Wiklund H, Kalushkova A. Atienza Párraga A, et al. Among authors: skaftason a. Sci Rep. 2025 Aug 27;15(1):31568. doi: 10.1038/s41598-025-17093-z. Sci Rep. 2025. PMID: 40866476 Free PMC article.
Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study.
Haider Z, Wästerlid T, Spångberg LD, Rabbani L, Jylhä C, Thorvaldsdottir B, Skaftason A, Awier HN, Krstic A, Gellerbring A, Lyander A, Hägglund M, Jeggari A, Rassidakis G, Sonnevi K, Sander B, Rosenquist R, Tham E, Smedby KE. Haider Z, et al. Among authors: skaftason a. Front Oncol. 2023 Jun 2;13:1176698. doi: 10.3389/fonc.2023.1176698. eCollection 2023. Front Oncol. 2023. PMID: 37333831 Free PMC article.
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Rezayee F, Eisfeldt J, Skaftason A, Öfverholm I, Sayyab S, Syvänen AC, Maqbool K, Lilljebjörn H, Johansson B, Olsson-Arvidsson L, Pietras CO, Staffas A, Palmqvist L, Fioretos T, Cavelier L, Fogelstrand L, Nordlund J, Wirta V, Rosenquist R, Barbany G. Rezayee F, et al. Among authors: skaftason a. Front Oncol. 2023 Aug 14;13:1217712. doi: 10.3389/fonc.2023.1217712. eCollection 2023. Front Oncol. 2023. PMID: 37664045 Free PMC article.
Correction: Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY.
Mansouri L, Thorvaldsdottir B, Sutton LA, Karakatsoulis G, Meggendorfer M, Parker H, Nadeu F, Brieghel C, Laidou S, Moia R, Rossi D, Catherwood M, Kotaskova J, Delgado J, Rodríguez-Vicente AE, Benito R, Rigolin GM, Bonfiglio S, Scarfo L, Mattsson M, Davis Z, Gogia A, Rani L, Baliakas P, Foroughi-Asl H, Jylhä C, Skaftason A, Rapado I, Miras F, Martinez-Lopez J, de la Serna J, Rivas JMH, Thornton P, Larráyoz MJ, Calasanz MJ, Fésüs V, Mátrai Z, Bödör C, Smedby KE, Espinet B, Puiggros A, Gupta R, Bullinger L, Bosch F, Tazón-Vega B, Baran-Marszak F, Oscier D, Nguyen-Khac F, Zenz T, Terol MJ, Cuneo A, Hernández-Sánchez M, Pospisilova S, Mills K, Gaidano G, Niemann CU, Campo E, Strefford JC, Ghia P, Stamatopoulos K, Rosenquist R. Mansouri L, et al. Among authors: skaftason a. Leukemia. 2023 Feb;37(2):504. doi: 10.1038/s41375-023-01813-3. Leukemia. 2023. PMID: 36635392 Free PMC article. No abstract available.
BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib.
Bonfiglio S, Sutton LA, Ljungström V, Capasso A, Pandzic T, Weström S, Foroughi-Asl H, Skaftason A, Gellerbring A, Lyander A, Gandini F, Gaidano G, Trentin L, Bonello L, Reda G, Bödör C, Stavroyianni N, Tam CS, Marasca R, Forconi F, Panayiotidis P, Ringshausen I, Jaksic O, Frustaci AM, Iyengar S, Coscia M, Mulligan SP, Ysebaert L, Strugov V, Pavlovsky C, Walewska R, Österborg A, Cortese D, Ranghetti P, Baliakas P, Stamatopoulos K, Scarfò L, Rosenquist R, Ghia P. Bonfiglio S, et al. Among authors: skaftason a. Blood Adv. 2023 Jun 27;7(12):2794-2806. doi: 10.1182/bloodadvances.2022008821. Blood Adv. 2023. PMID: 36696464 Free PMC article.
17 results