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Journal Articles

Molecular taxonomy of myelodysplastic syndromes and its clinical implications

Elsa Bernard, Robert P. Hasserjian, Peter L. Greenberg, Juan E. Arango Ossa, Maria Creignou, Heinz Tuechler, Jesus Gutierrez-Abril, Dylan Domenico, Juan S. Medina-Martinez, Max Levine, Konstantinos Liosis, Noushin Farnoud, Maria Sirenko, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Yasuhito Nannya, Olivier Kosmider, Matilde Y. Follo, Felicitas Thol, Lurdes Zamora, Ronald F. Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Michaela Fontenay, Joop H. Jansen, José Cervera, Norbert Gattermann, Benjamin L. Ebert, Rafael Bejar, Luca Malcovati, Seishi Ogawa, Mario Cazzola, Eva Hellström-Lindberg, Elli Papaemmanuil

Blood (2024) 144 (15): 1617–1632.

https://doi.org/10.1182/blood.2023023727

Published: 2024

Includes: Supplemental data

Journal Articles

Molecular and clinical presentation of UBA1 -mutated myelodysplastic syndromes

Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E. Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Birgitta Sander, Elisa Orna, Katharina Zoldan, Lea Naomi Eder, Wolfgang R. Sperr, Renate Thalhammer, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B. Beck, Eva Hellström-Lindberg, Elli Papaemmanuil

Blood (2024) 144 (11): 1221–1229.

https://doi.org/10.1182/blood.2023023723

Published: 2024

Includes: Supplemental data

Journal Articles

Enhancing Cytogenetic Diagnostics: Incorporating Optical Genome Mapping in the Laboratory Routine

Blood (2023) 142 (Supplement 1): 5024.

https://doi.org/10.1182/blood-2023-180691

Published: 2023

Journal Articles

Early-Onset Myelodysplastic Syndromes (MDS) with Ring Sideroblasts (RS) without SF3B1 Mutations in Adults: Enrichment with Germline Variants in Genes Responsible for Congenital Sideroblastic Anemias

Sandra Novoa Jáuregui, Tzu Chen, Sara Torres-Esquius, Salvador Carrillo-Tornel, Marta Santiago, Teresa Bernal Del Castillo, Francisca Maria Hernandez, Alessandro Liquori, Ivan Martin Castillo, Mar Tormo, Barbara Tazon, Adoracion Blanco, Laura Palomo, Jose Cervera, Francesc Bosch, David Valcarcel, Maria Diez-Campelo, Julia Montoro, Andres Jerez

Blood (2023) 142 (Supplement 1): 4610.

https://doi.org/10.1182/blood-2023-185836

Published: 2023

Journal Articles

Cis-Acting Splicing-Associated Variants Can Redefine the Molecular Signature of Genes Commonly Mutated in Acute Myeloid Leukemia

Mireya Morote-Faubel, Maria Guaita-Céspedes, Beatriz Fernández-Blanco, Cristina Martínez-Valiente, Cristian García-Ruiz, Marta Santiago, Alvaro Diaz-Gonzalez, Alejandra Sanjuan-Pla, Mariam Ibáñez, Eva Barragan, Esperanza Such, Mireya Morote Faubel, Pau Montesinos, Javier De La Rubia, Alessandro Liquori, Jose Cervera

Blood (2023) 142 (Supplement 1): 2936.

https://doi.org/10.1182/blood-2023-177571

Published: 2023

Journal Articles

Molecular Taxonomy of Myelodysplastic Syndromes and Its Clinical Implications

Elsa Bernard, Robert Hasserjian, Peter L. Greenberg, Juan E Arango Ossa, Maria Creignou, Yasuhito Nannya, Heinz Tuechler, Juan S Medina-Martínez, Max F Levine, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Olivier Kosmider, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K Elias, Detlef Haase, Maria Sirenko, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Sole, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Norbert Gattermann, Benjamin L. Ebert, Rafael Bejar, Luca Malcovati, Mario Cazzola, Seishi Ogawa, Eva Hellstrom Lindberg, Elli Papaemmanuil

Blood (2023) 142 (Supplement 1): 997.

https://doi.org/10.1182/blood-2023-186863

Published: 2023

Journal Articles

UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes

Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Andrea Pellagatti, Harold K Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Sole, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B Beck, Eva Hellstrom Lindberg, Elli Papaemmanuil

Blood (2023) 142 (Supplement 1): 1862.

https://doi.org/10.1182/blood-2023-182949

Published: 2023

Journal Articles

Germline Predisposition in Myeloid Neoplasms Aged ≥50: A Novel Approach for Allogeneic Stem Cell -Transplantation Decision-Making

Blood (2023) 142 (Supplement 1): 5663.

https://doi.org/10.1182/blood-2023-179234

Published: 2023

Journal Articles

Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS

Maria Sirenko, Elsa Bernard, David B. Beck, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E Arango, Olivier Kosmider, Robert P. Hasserjian, Martin Jadersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Matilde Y Follo, Felicitas R. Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo G. Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio Pires de Souza Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, Eva Hellström-Lindberg, Elli Papaemmanuil

Blood (2022) 140 (Supplement 1): 9785–9788.

https://doi.org/10.1182/blood-2022-162397

Published: 2022

Journal Articles

ERCC6L2 in Early-Onset Adult Myelodysplastic Syndrome without Pre-Existing Disorder

Salvador Carrillo-Tornel, Tzu Hua Chen-Liang, Ana Yeguas Bermejo, Helena Pomares, Alessandro Liquori, Teresa González, Teresa Bernal del Castillo, Marta Santiago, Félix López Cadenas, Bernardo López Andrade, Raul Teruel Montoya, Esperanza Such, Francisca Maria Hernandez, Blanca Xicoy, Montserrat Arnan Sangerman, Francesc Solé, Jose Cervera, Maria Diez-Campelo, Andres Jerez

Blood (2022) 140 (Supplement 1): 4074–4075.

https://doi.org/10.1182/blood-2022-168759

Published: 2022

Journal Articles

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Blood (2021) 138 (23): 2441–2445.

https://doi.org/10.1182/blood.2021012781

Published: 2021

Includes: Supplemental data

Journal Articles

Characteristics and Outcome of Patients with Acute Myeloid Leukemia and Trisomy 4

Blood (2021) 138 (Supplement 1): 1307.

https://doi.org/10.1182/blood-2021-150281

Published: 2021

Journal Articles

TP53 State Dictates Genome Stability, Clinical Presentation and Outcomes in Myelodysplastic Syndromes

Elsa Bernard, PhD, Yasuhito Nannya, MD PhD, Tetsuichi Yoshizato, MD PhD, Robert P. Hasserjian, MD, Ryunosuke Saiki, Yusuke Shiozawa, MD PhD, Sean M. Devlin, PhD, Heinz Tuechler, Araxe Sarian, Luca Malcovati, MD, Francesc Sole, PhD, Detlef Haase, MD, Maria Creignou, Max Levine, MS, Ulrich Germing, MD, Catherine Cargo, MB, FRCPath, Yanming Zhang, MD, Juan Medina, MS, Juan E. Arango Ossa, BS, Julie Schanz, MD PhD, Arjan van de Loosdrecht, MD PhD, Martin Jädersten, MD PhD, John M. Bennett, MD, Magnus Tobiasson, MD PhD, Olivier Kosmider, PharmD, PhD, Matilde Y Follo, PhD, Felicitas Thol, MD, Ronald F Pinheiro, MD, Valeria Santini, MD, Ioannis Kotsianidis, Jacqueline Boultwood, Fabio PS Santos, MD, Senji Kasahara, MD PhD, Takayuki Ishikawa, MD PhD, Hisashi Tsurumi, MD PhD, Akifumi Takaori-Kondo, MD PhD, Toru Kiguchi, Chantana Polprasert, MD, Virginia M. Klimek, MD, Michael R. Savona, MD, Monika Belickova, PhD, Christina Ganster, Lionel Ades, MD PhD, Matteo Giovanni Della Porta, MD, Alexandra Smith, PhD, Yesenia Werner, Minal A Patel, MPH, Agnes Viale, PhD, Katelynd Vanness, Donna S Neuberg, ScD, Kristen E. Stevenson, MS, Kamal Menghrajani, MD, Kelly Bolton, MD PhD, Pierre Fenaux, MD PhD, Andrea Pellagatti, Uwe Platzbecker, MD, Michael Heuser, MD, Peter Valent, MD, Shigeru Chiba, MD PhD, Yasushi Miyazaki, MD PhD, Carlo Finelli, Maria Teresa Voso, MD, Lee-Yung Shih, MD, Michaela Fontenay, MD PhD, Joop H. Jansen, PhD, José Cervera, MD PhD, Yoshiko Atsuta, MD PhD, Norbert Gattermann, MD, Benjamin L. Ebert, MD PhD, Rafael Bejar, MD PhD, Peter L Greenberg, MD, Mario Cazzola, MD, Eva Hellstrom Lindberg, MD PhD, Seishi Ogawa, MD PhD, Elli Papaemmanuil, PhD

Blood (2019) 134 (Supplement_1): 675.

https://doi.org/10.1182/blood-2019-129392

Published: 2019

Journal Articles

Germinal Predisposition in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction: Identification of Deleterious Variants in Microsatellite Instability Genes

Blood (2019) 134 (Supplement_1): 4226.

https://doi.org/10.1182/blood-2019-127204

Published: 2019

Journal Articles

Preexisting Mutations in Hematopoietic Stem Cells in Patients with Therapy-Related Myeloid Neoplasms

Blood (2017) 130 (Supplement 1): 3956.

https://doi.org/10.1182/blood.V130.Suppl_1.3956.3956

Published: 2017

Journal Articles

A Novel Single Next-Generation Sequencing (NGS) Approach for the Molecular Karyotyping and Genotyping of Patients with Myelodysplastic Syndromes

Blood (2017) 130 (Supplement 1): 1700.

https://doi.org/10.1182/blood.V130.Suppl_1.1700.1700

Published: 2017

Journal Articles

Rapid Screening of Targetable Kinase Gene Fusions in Acute Lymphoblastic Leukemia

Esperanza Such, Gayane Avetisyan, Iván Martín, Inés Gómez-Seguí, PhD, Francisca García, Eva Villamón, PhD, Alessandro Liquori, PhD, Francisco Mares, MD, Marta Llop, Paula Amat, MDPhD, Mariam Ibañez, Eva Barragán, Mar Tormo, MD PhD, Guillermo Sanz, MD, Carlos Solano, MD PhD, José Cervera, MD PhD, Blanca Navarro, Miguel A. Sanz, MD

Blood (2017) 130 (Supplement 1): 1436.

https://doi.org/10.1182/blood.V130.Suppl_1.1436.1436

Published: 2017

Journal Articles

Comparison of the Molecular Spectrum of Lenalidomide-Treated Myelodysplastic Syndrome with and without Del(5q)

Blood (2016) 128 (22): 3172.

https://doi.org/10.1182/blood.V128.22.3172.3172

Published: 2016

Journal Articles

Isolate Loss of Y Chromosome Decreases the Risk of Leukemic Transformation in the Myelodysplastic Syndromes. a Study By the Spanish Group of Myelodysplastic Syndromes

Blood (2016) 128 (22): 4331.

https://doi.org/10.1182/blood.V128.22.4331.4331

Published: 2016

Journal Articles

Influence of Cytarabine Metabolic Pathway Polymorphisms in Acute Myeloid Leukemia Induction Treatment

Juan Eduardo Megías-Vericat, PharmD, Montesinos Pau, MD PhD, María José Herrero, PhD, Federico Moscardó, MD PhD, Virginia Bosó, PharmD, David Martínez-Cuadrón, MD PhD, Luis Rojas, MD, Rebeca Rodríguez-Veiga, MD, David Hervás, Blanca Boluda, MD, Luis Sendra, PhD, Jaime Sanz, MD PhD, Antonio Miguel, PhD, Jose Cervera, MD PhD, José Luis Poveda, PhD, Salvador F Aliño, PhD, Miguel Ángel Sanz, MD PhD

Blood (2016) 128 (22): 5130.

https://doi.org/10.1182/blood.V128.22.5130.5130

Published: 2016

NARROW

Molecular taxonomy of myelodysplastic syndromes and its clinical implications

Molecular and clinical presentation of UBA1 -mutated myelodysplastic syndromes

Enhancing Cytogenetic Diagnostics: Incorporating Optical Genome Mapping in the Laboratory Routine

Early-Onset Myelodysplastic Syndromes (MDS) with Ring Sideroblasts (RS) without SF3B1 Mutations in Adults: Enrichment with Germline Variants in Genes Responsible for Congenital Sideroblastic Anemias

Cis-Acting Splicing-Associated Variants Can Redefine the Molecular Signature of Genes Commonly Mutated in Acute Myeloid Leukemia

Molecular Taxonomy of Myelodysplastic Syndromes and Its Clinical Implications

UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes

Germline Predisposition in Myeloid Neoplasms Aged ≥50: A Novel Approach for Allogeneic Stem Cell -Transplantation Decision-Making

Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS

ERCC6L2 in Early-Onset Adult Myelodysplastic Syndrome without Pre-Existing Disorder

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Characteristics and Outcome of Patients with Acute Myeloid Leukemia and Trisomy 4

TP53 State Dictates Genome Stability, Clinical Presentation and Outcomes in Myelodysplastic Syndromes

Germinal Predisposition in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction: Identification of Deleterious Variants in Microsatellite Instability Genes

Preexisting Mutations in Hematopoietic Stem Cells in Patients with Therapy-Related Myeloid Neoplasms

A Novel Single Next-Generation Sequencing (NGS) Approach for the Molecular Karyotyping and Genotyping of Patients with Myelodysplastic Syndromes

Rapid Screening of Targetable Kinase Gene Fusions in Acute Lymphoblastic Leukemia

Comparison of the Molecular Spectrum of Lenalidomide-Treated Myelodysplastic Syndrome with and without Del(5q)

Isolate Loss of Y Chromosome Decreases the Risk of Leukemic Transformation in the Myelodysplastic Syndromes. a Study By the Spanish Group of Myelodysplastic Syndromes

Influence of Cytarabine Metabolic Pathway Polymorphisms in Acute Myeloid Leukemia Induction Treatment

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