Publications
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2025
Ann Intern Med. 2025 Feb;178(2):300-304. PMID: 39832370.
Creignou M, Sirenko M, Moura PL, Mortera-Blanco T, Dimitriou M, Sander B, Domenico D, Arango Ossa JE, Tesi B, Beck DB, Woll P, Jacobsen SW, Papaemmanuil E, Bernard E, Hellström-Lindberg E.
2024
Molecular Taxonomy of Myelodysplastic Syndromes and its Clinical Implications.
Blood. 2024 Oct 10;144(15):1617-1632. PMID: 38958467.
Bernard E, Hasserjian RP, Greenberg PL, Arango Ossa JE, Creignou M, Tuechler H, Gutiérrez-Abril J, Domenico D, Medina-Martinez JS, Levine MF, Liosis K, Farnoud N, Sirenko M, Jädersten M, Germing U, Sanz GF, Van de Loosdrecht AA, Nannya Y, Kosmider O, Follo MY, Thol FR, Zamora L, Pinheiro RF, Pellagatti A, Elias HK, Haase DT, Ganster C, Ades L, Tobiasson M, Palomo L, Della Porta MG, Fenaux P, Belickova M, Savona MR, Klimek V, Santos FPS, Boultwood J, Kotsianidis I, Santini V, Sole F, Platzbecker U, Heuser M, Valent P, Finelli C, Voso MT, Shih LY, Fontenay M, Jansen JH, Cervera J, Gattermann N, Ebert BL, Bejar R, Malcovati L, Ogawa S, Cazzola M, Hellstrom-Lindberg ES, Papaemmanuil E.
Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
Blood. 2024 Sep 12;144(11):1221-1229. PMID: 38687605.
Sirenko M, Bernard E, Creignou M, Domenico D, Farina A, Arango Ossa JE, Kosmider O, Hasserjian R, Jädersten M, Germing U, Sanz G, van de Loosdrecht AA, Gurnari C, Follo MY, Thol F, Zamora L, Pinheiro RF, Pellagatti A, Elias HK, Haase D, Sander B, Orna E, Zoldan K, Eder LN, Sperr WR, Thalhammer R, Ganster C, Adès L, Tobiasson M, Palomo L, Della Porta MG, Huberman K, Fenaux P, Belickova M, Savona MR, Klimek VM, Santos FPS, Boultwood J, Kotsianidis I, Santini V, Solé F, Platzbecker U, Heuser M, Valent P, Finelli C, Voso MT, Shih LY, Ogawa S, Fontenay M, Jansen JH, Cervera J, Ebert BL, Bejar R, Greenberg PL, Gattermann N, Malcovati L, Cazzola M, Beck DB, Hellström-Lindberg E, Papaemmanuil E.
Embracing cancer complexity: Hallmarks of systemic disease.
Cell. 2024 Mar 28;187(7):1589-1616. PMID: 38552609.
Swanton C*, Bernard E*, Abbosh C, André F, Auwerx J, Balmain A, Bar-Sagi D, Bernards R, Bullman S, DeGregori J, Elliott C, Erez A, Evan G, Febbraio MA, Hidalgo A, Jamal-Hanjani M, Joyce JA, Kaiser M, Lamia K, Locasale JW, Loi S, Malanchi I, Merad M, Musgrave K, Patel KJ, Quezada S, Wargo JA, Weeraratna A, White E, Winkler F, Wood JN, Vousden KH, Hanahan D.
J Intern Med. 2024 Jul;296(1):53-67.
Creignou M, Bernard E, Gasparini A, Tranberg A, Todisco G, Moura PL, Ejerblad E, Nilsson L, Garelius H, Antunovic P, Lorenz F, Rasmussen B, Walldin G, Mortera-Blanco T, Jansson M, Tobiasson M, Elena C, Ferrari J, Gallì A, Pozzi S, Malcovati L, Edgren G, Crowther MJ, Jädersten M, Papaemmanuil E, Hellström-Lindberg E.
Predicting cytopenias, progression, and survival in patients with clonal cytopenia of undetermined significance: a prospective cohort study.
Lancet Haematol. 2024 Jan;11(1):e51-e61. PMID: 38135373.
Cargo C, Bernard E, Beinortas T, Bolton KL, Glover P, Warren H, Payne D, Ali R, Khan A, Short M, Van Hoppe S, Smith A, Taylor J, Evans P, Papaemmanuil E, Crouch S.
2023
Clonal Hematopoiesis in Patients With Cancer: How Much Should We Care?
JCO Precis Oncol. 2023 Sep;7:e2300417. PMID: 37944073.
Renneville A, Bernard E, Micol JB.
Placing the patient at the heart of discovery science.
Eur J Cancer. 2023 Nov;193:113306. PMID: 37742469.
Aldea M, Bernard E, Swanton C, Andre F.
Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts.
Clin Cancer Res. 2023 Oct 13;29(20):4256-4267. PMID: 37498312.
Todisco G, Creignou M, Bernard E, Björklund AC, Moura PL, Tesi B, Mortera-Blanco T, Sander B, Jansson M, Walldin G, Barbosa I, Reinsbach SE, Hofman IJ, Nilsson C, Yoshizato T, Dimitriou M, Chang D, Olafsdottir S, Venckute Larsson S, Tobiasson M, Malcovati L, Woll P, Jacobsen SEW, Papaemmanuil E, Hellström-Lindberg E.
Therapy-related myelodysplastic syndromes in the genomics era.
Bull Cancer. 2023 Nov;110(11):1129-1140. PMID: 37391357.
Renneville A, Bernard E, Micol JB.
Novel precision medicine approaches and treatment strategies in hematological malignancies.
J Intern Med. 2023 Oct;294(4):413-436. PMID: 37424223.
Rosenquist R, Bernard E, Erkers T, Scott DW, Itzykson R, Rousselot P, Soulier J, Hutchings M, Östling P, Cavelier L, Fioretos T, Smedby KE.
Liquid Biopsies for Circulating Tumor DNA Detection May Reveal Occult Hematologic Malignancies in Patients With Solid Tumors.
JCO Precis Oncol. 2023 Mar;7:e2200583. PMID: 36862966.
Aldea M, Tagliamento M, Bayle A, Vasseur D, Vergé V, Marinello A, Danlos FX, Blanc-Durand F, Bernard E, Cerbone L, Mosele MF, Renneville A, Hadoux J, Loriot Y, Sakkal M, Vozy A, Sarkozy C, Smolenschi C, Nicotra C, Martin-Romano P, Boccon-Gibod C, Habza W, Lazarovici J, Ponce S, Hollebecque A, Marzac C, Lacroix L, Barlesi F, André F, Besse B, Rouleau E, Italiano A, Micol JB.
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Blood Adv. 2023 Jul 25;7(14):3624-3636. PMID: 36989067.
Nannya Y, Tobiasson M, Sato S, Bernard E, Ohtake S, Takeda J, Creignou M, Zhao L, Kusakabe M, Shibata Y, Nakamura N, Watanabe M, Hiramoto N, Shiozawa Y, Shiraishi Y, Tanaka H, Yoshida K, Kakiuchi N, Makishima H, Nakagawa M, Usuki K, Watanabe M, Imada K, Handa H, Taguchi M, Kiguchi T, Ohyashiki K, Ishikawa T, Takaori-Kondo A, Tsurumi H, Kasahara S, Chiba S, Naoe T, Miyano S, Papaemanuil E, Miyazaki Y, Hellström-Lindberg E, Ogawa S.
Patient-Derived iPSCs Faithfully Represent the Genetic Diversity and Cellular Architecture of Human Acute Myeloid Leukemia.
Blood Cancer Discov. 2023 Jul 5;4(4):318-335. PMID: 37067914.
Kotini AG, Carcamo S, Cruz-Rodriguez N, Olszewska M, Wang T, Demircioglu D, Chang CJ, Bernard E, Chao MP, Majeti R, Luo H, Kharas MG, Hasson D, Papapetrou EP.
2022
2021
Unified classification and risk-stratification in Acute Myeloid Leukemia.
Nat Commun. 2022 Aug 8;13(1):4622. PMID: 35941135.
Tazi Y, Arango-Ossa JE, Zhou Y, Bernard E, Thomas I, Gilkes A, Freeman S, Pradat Y, Johnson SJ, Hills R, Dillon R, Levine MF, Leongamornlert D, Butler A, Ganser A, Bullinger L, Döhner K, Ottmann O, Adams R, Döhner H, Campbell PJ, Burnett AK, Dennis M, Russell NH, Devlin SM, Huntly BJP, Papaemmanuil E.
Molecular International Prognostic Scoring System for Myelodysplastic Syndromes.
NEJM Evid. 2022 Jul;1(7):EVIDoa2200008. PMID: 38319256.
Bernard E, Tuechler H, Greenberg PL, Hasserjian RP, Arango Ossa JE, Nannya Y, Devlin SM, Creignou M, Pinel P, Monnier L, Gundem G, Medina-Martinez JS, Domenico D, Jädersten M, Germing U, Sanz G, van de Loosdrecht AA, Kosmider O, Follo MY, Thol F, Zamora L, Pinheiro RF, Pellagatti A, Elias HK, Haase D, Ganster C, Ades L, Tobiasson M, Palomo L, Della Porta MG, Takaori-Kondo A, Ishikawa T, Chiba S, Kasahara S, Miyazaki Y, Viale A, Huberman K, Fenaux P, Belickova M, Savona MR, Klimek VM, Santos FPS, Boultwood J, Kotsianidis I, Santini V, Solé F, Platzbecker U, Heuser M, Valent P, Ohyashiki K, Finelli C, Voso MT, Shih LY, Fontenay M, Jansen JH, Cervera J, Gattermann N, Ebert BL, Bejar R, Malcovati L, Cazzola M, Ogawa S, Hellström-Lindberg E, Papaemmanuil E.
Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of SF3B1-mutant HSPCs.
Blood Adv. 2022 May 24;6(10):2992-3005. PMID: 35042235.
Asimomitis G, Deslauriers AG, Kotini AG, Bernard E, Esposito D, Olszewska M, Spyrou N, Arango Ossa J, Mortera-Blanco T, Koche R, Nannya Y, Malcovati L, Ogawa S, Cazzola M, Aaronson SA, Hellström-Lindberg E, Papaemmanuil E, Papapetrou EP.
2020
ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing.
Blood Cancer Discov. 2021 Sep;2(5):500-517. PMID: 34568833.
Beauchamp EM, Leventhal M, Bernard E, Hoppe ER, Todisco G, Creignou M, Gallì A, Castellano CA, McConkey M, Tarun A, Wong W, Schenone M, Stanclift C, Tanenbaum B, Malolepsza E, Nilsson B, Bick AG, Weinstock JS, Miller M, Niroula A, Dunford A, Taylor-Weiner A, Wood T, Barbera A, Anand S, Psaty BM, Desai P, Cho MH, Johnson AD, Loos R; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; MacArthur DG, Lek M; Exome Aggregation Consortium; Neuberg DS, Lage K, Carr SA, Hellstrom-Lindberg E, Malcovati L, Papaemmanuil E, Stewart C, Getz G, Bradley RK, Jaiswal S, Ebert BL.
Interplay between chromosomal alterations and gene mutations shapes the evolutionary trajectory of clonal hematopoiesis.
Nat Commun. 2021 Jan 12;12(1):338. PMID: 33436578.
Gao T, Ptashkin R, Bolton KL, Sirenko M, Fong C, Spitzer B, Menghrajani K, Ossa JEA, Zhou Y, Bernard E, Levine M, Martinez JSM, Zhang Y, Franch-Expósito S, Patel M, Braunstein LZ, Kelly D, Yabe M, Benayed R, Caltabellotta NM, Philip J, Paraiso E, Mantha S, Solit DB, Diaz LA Jr, Berger MF, Klimek V, Levine RL, Zehir A, Devlin SM, Papaemmanuil E.
Cancer therapy shapes the fitness landscape of clonal hematopoiesis.
Nat Genet. 2020 Nov;52(11):1219-1226. PMID: 33106634; PMCID: PMC7891089.
Bolton KL, Ptashkin RN, Gao T, Braunstein L, Devlin SM, Kelly D, Patel M, Berthon A, Syed A, Yabe M, Coombs CC, Caltabellotta NM, Walsh M, Offit K, Stadler Z, Mandelker D, Schulman J, Patel A, Philip J, Bernard E, Gundem G, Ossa JEA, Levine M, Martinez JSM, Farnoud N, Glodzik D, Li S, Robson ME, Lee C, Pharoah PDP, Stopsack KH, Spitzer B, Mantha S, Fagin J, Boucai L, Gibson CJ, Ebert BL, Young AL, Druley T, Takahashi K, Gillis N, Ball M, Padron E, Hyman DM, Baselga J, Norton L, Gardos S, Klimek VM, Scher H, Bajorin D, Paraiso E, Benayed R, Arcila ME, Ladanyi M, Solit DB, Berger MF, Tallman M, Garcia-Closas M, Chatterjee N, Diaz LA Jr, Levine RL, Morton LM, Zehir A, Papaemmanuil E.
Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes.
Nat Med. 2020 Oct;26(10):1549-1556. PMID: 32747829; PMCID: PMC8381722.
Bernard E, Nannya Y, Hasserjian RP, Devlin SM, Tuechler H, Medina-Martinez JS, Yoshizato T, Shiozawa Y, Saiki R, Malcovati L, Levine MF, Arango JE, Zhou Y, Solé F, Cargo CA, Haase D, Creignou M, Germing U, Zhang Y, Gundem G, Sarian A, van de Loosdrecht AA, Jädersten M, Tobiasson M, Kosmider O, Follo MY, Thol F, Pinheiro RF, Santini V, Kotsianidis I, Boultwood J, Santos FPS, Schanz J, Kasahara S, Ishikawa T, Tsurumi H, Takaori-Kondo A, Kiguchi T, Polprasert C, Bennett JM, Klimek VM, Savona MR, Belickova M, Ganster C, Palomo L, Sanz G, Ades L, Della Porta MG, Elias HK, Smith AG, Werner Y, Patel M, Viale A, Vanness K, Neuberg DS, Stevenson KE, Menghrajani K, Bolton KL, Fenaux P, Pellagatti A, Platzbecker U, Heuser M, Valent P, Chiba S, Miyazaki Y, Finelli C, Voso MT, Shih LY, Fontenay M, Jansen JH, Cervera J, Atsuta Y, Gattermann N, Ebert BL, Bejar R, Greenberg PL, Cazzola M, Hellström-Lindberg E, Ogawa S, Papaemmanuil E.