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Journal Articles

Multi‑omics analysis of Del20q reveals PHF20 haploinsufficiency and an HDAC2-centered epigenetic circuit in myeloid neoplasms

Mark Orland, Arda Durmaz, Zachary Brady, Carlos Bravo-Perez, Aashray Mandala, Kartik Lakhotiya, Atsushi Marumo, Serhan Unlu, Matteo D'Addona, Luca Guarnera, Carmelo Gurnari, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 5616.

https://doi.org/10.1182/blood-2025-5616

Published: 2025

Journal Articles

Novel approaches to identify cellular vulnerabilities in TET2-dependent MDS

Blood (2025) 146 (Supplement 1): 3838.

https://doi.org/10.1182/blood-2025-3838

Published: 2025

Journal Articles

Serum erythropoietin level as a selective pressure in clonal hematopoiesis: Insights into the mutational landscape of myeloid neoplasias

Zachary Brady, Charlotte Zurowski, Felipe de Almeida Sartori, Tariq Kewan, Olivia Hunyadi, Mark Orland, Aashray Mandala, Christopher Haddad, Hetty Carraway, Abhay Singh, Serhan Unlu, Atsushi Marumo, Kartik Lakhotiya, Carmelo Gurnari, Arda Durmaz, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 3174.

https://doi.org/10.1182/blood-2025-3174

Published: 2025

Journal Articles

Machine learning uncovers invariant evolutionary molecular trajectories in MDS.

Matteo D'Addona, Arda Durmaz, Tariq Kewan, Waled Bahaj, Carlos Bravo-Perez, Luca Guarnera, Simona Pagliuca, Zachary Brady, Kartik Lakhotiya, Praveena Thiagarajan, Moaath Mustafa Ali, Abhay Singh, Hetty Carraway, Mark Orland, Carmelo Gurnari, Jacob Scott, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 2060.

https://doi.org/10.1182/blood-2025-2060

Published: 2025

Journal Articles

Epidemiologic clues, current management and diagnostic trends in idiopathic budd-chiari syndrome: Implications of PNH and diagnostic testing

Aashray Mandala, Arda Durmaz, Mark Orland, Carlos Bravo-Perez, Zachary Brady, Matteo D'Addona, Kartik Lakhotiya, Christopher Haddad, Praveena Thiagarajan, Serhan Unlu, Felipe de Almeida Sartori, Selin Ilaslan, Valeria Visconte, Carmelo Gurnari, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 1432.

https://doi.org/10.1182/blood-2025-1432

Published: 2025

Journal Articles

Global immunopeptidome remodeling favors piga mutant clones in bone marrow failure

Kartik Lakhotiya, Xiaorong Gu, Arda Durmaz, Aashray Mandala, Matteo D'Addona, Carlos Bravo-Perez, Mark Orland, Zachary Brady, Serhan Unlu, Atsushi Marumo, Praveena Thiagarajan, Christopher Haddad, Felipe de Almeida Sartori, ERSAN UNLU, Valeria Visconte, Carmelo Gurnari, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 3207.

https://doi.org/10.1182/blood-2025-3207

Published: 2025

Journal Articles

TP53 mutational spectrum and fitness landscape in myeloid neoplasia

ERSAN UNLU, Waled Bahaj, Tariq Kewan, Carlos Bravo-Perez, Serhan Unlu, Zachary Brady, Asfand Yar Cheema, Olivia Hunyadi, Charlotte Zurowski, Atsushi Marumo, Kartik Lakhotiya, Felipe de Almeida Sartori, Aashray Mandala, Mark Orland, Luca Guarnera, Carmelo Gurnari, Jaroslaw Maciejewski, Valeria Visconte, Arda Durmaz

Blood (2025) 146 (Supplement 1): 4360.

https://doi.org/10.1182/blood-2025-4360

Published: 2025

Journal Articles

Machine learning-derived, comprehensive “Geno-Immunome” of bone marrow failure syndromes reveals complex immunogenetic interactions with clinical implications

Aashray Mandala, Carlos Bravo-Perez, Mark Orland, Zachary Brady, Serhan Unlu, Atsushi Marumo, Kartik Lakhotiya, Christopher Haddad, Felipe de Almeida Sartori, Asfand Yar Cheema, Simona Pagliuca, Carmelo Gurnari, Valeria Visconte, Arda Durmaz, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 2583.

https://doi.org/10.1182/blood-2025-2583

Published: 2025

Journal Articles

Exploring the spectrum of non-malignant complications in germline DDX41-associated hematologic disorders

Valeria Visconte, Serhan Unlu, Mark Orland, Praveena Thiagarajan, Aashray Mandala, Matteo D'Addona, Olivia Hunyadi, Zachary Brady, Kartik Lakhotiya, Felipe de Almeida Sartori, Carmelo Gurnari, Arda Durmaz, Carlos Bravo-Perez, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 1445.

https://doi.org/10.1182/blood-2025-1445

Published: 2025

Journal Articles

Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits

Arda Durmaz, Carlos Bravo-Perez, Olivia Hunyadi, Zachary Brady, Luca Guarnera, Mark Orland, Serhan Unlu, Praveena Thiagarajan, Asfand Yar Cheema, Kartik Lakhotiya, Aashray Mandala, Felipe de Almeida Sartori, Matteo D'Addona, Jacob Scott, Carmelo Gurnari, Jaroslaw Maciejewski, Valeria Visconte

Blood (2025) 146 (Supplement 1): 1443.

https://doi.org/10.1182/blood-2025-1443

Published: 2025

Journal Articles

A comparative analysis of epigenetic age acceleration across distinct hematopoietic clones in hematologic diseases

Atsushi Marumo, Arda Durmaz, Aashray Mandala, Christopher Haddad, Felipe Sartori, Olivia Hunyadi, Ersan Unlu, Serhan Unlu, Zachary Brady, Matteo D Addona, Kartik Lakhotiya, Luca Guarnera, Mark Orland, Carlos Bravo-Perez, Carmelo Gurnari, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 4945.

https://doi.org/10.1182/blood-2025-4945

Published: 2025

Journal Articles

Invariant patterns of global mutational signatures allow new fundamental insights in etiopathogenesis of bone marrow failure including aplastic anemia and myelodysplasia

Felipe de Almeida Sartori, Arda Durmaz, Carlos Bravo-Perez, Zachary Brady, Mark Orland, Aashray Mandala, Atsushi Marumo, Olivia Hunyadi, Eno-obong Udoh, Kartik Lakhotiya, Charlotte Zurowski, Paulo Campregher, Carmelo Gurnari, Thomas Laframboise, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 4985.

https://doi.org/10.1182/blood-2025-4985

Published: 2025

Journal Articles

Autoimmunity against POLR3A and cytopenias in aplastic anemia and other bone marrow failure syndromes

Serhan Unlu, Kartik Lakhotiya, Mark Orland, Asfand Yar Cheema, Olisaemeka Ogbue, Luca Guarnera, Carmelo Gurnari, Carlos Bravo-Perez, Aashray Mandala, Hari Krishnamurty, Karthik Krishna, Vasanth Jayaraman, Praveena Thiagarajan, Zachary Brady, Valeria Visconte, Arda Durmaz, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 4977.

https://doi.org/10.1182/blood-2025-4977

Published: 2025

Journal Articles

Concurrent clonality of multiple hematopoietic lineages: Implications for pathogenesis and management of cytopenia

Carlos Bravo-Perez, Carmelo Gurnari, Aashray Mandala, Naomi Kawashima, Atsushi Marumo, Zachary Brady, Mark Orland, Serhan Unlu, Luca Guarnera, Matteo D'Addona, Praveena Thiagarajan, Felipe de Almeida Sartori, Kartik Lakhotiya, Megan Nakashima, Heesun Rogers, Arda Durmaz, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 1391.

https://doi.org/10.1182/blood-2025-1391

Published: 2025

Journal Articles

GLP‑1 receptor agonists and clonal hematopoiesis: Early human signals of anti‑inflammatory clone mitigation and lower MDS‑to‑AML progression

Mark Orland, Asfand Yar Cheema, Zachary Brady, Aashray Mandala, Felipe de Almeida Sartori, Luca Guarnera, Christopher Haddad, Kartik Lakhotiya, Carlos Bravo-Perez, Carmelo Gurnari, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 1385.

https://doi.org/10.1182/blood-2025-1385

Published: 2025

Journal Articles

The basis for the differential impact of BCOR and BCORL1 in aplastic anemia/paroxysmal nocturnal hemoglobinuria and myeloid neoplasia

Atsushi Marumo, Arda Durmaz, Aashray Mandala, Christopher Haddad, Felipe Sartori, Olivia Hunyadi, Ersan Unlu, Serhan Unlu, Zachary Brady, Matteo D Addona, Kartik Lakhotiya, Luca Guarnera, Masanori Yoshida, Mark Orland, Carlos Bravo-Perez, Carmelo Gurnari, Marcin Wlodarski, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 3196.

https://doi.org/10.1182/blood-2025-3196

Published: 2025

Journal Articles

Genetic Determinants of Hypercoagulability in Complement and Hemostatic Systems Shape the Thrombotic Risk of Paroxysmal Nocturnal Hemoglobinuria

Carlos Bravo-Perez, Carmelo Gurnari, Arda Durmaz, Stephan Hutter, Zachary Brady, Hussein Awada, Aashray Mandala, Luca Guarnera, Matteo D'Addona, Kartik Lakhotiya, Praveena Thiagarajan, Alan Eli Lichtin, Torsten Haferlach, Valeria Visconte, Jaroslaw Maciejewski

Blood (2024) 144 (Supplement 1): 31.

https://doi.org/10.1182/blood-2024-208885

Published: 2024

Journal Articles

First Results of High Throughput Pipeline for Serotypic and TCR Clonotypic Specificities in Aplastic Anemia and Large Granular Lymphocyte Leukemia Uncovering Antigenic Peptides Relevant to Disease Etiology

Kartik Lakhotiya, Carmelo Gurnari, Carlos Bravo-Perez, Aashray Mandala, Matteo D'Addona, Christopher Haddad, Mark Orland, Zachary Brady, Luca Guarnera, Praveena Thiagarajan, Ishani Nautiyal, Simona Pagliuca, Hari Krishnamurthy, Karthik Krishna, Vasanth Jayaraman, Valeria Visconte, Jaroslaw Maciejewski, Arda Durmaz

Blood (2024) 144 (Supplement 1): 35.

https://doi.org/10.1182/blood-2024-210990

Published: 2024

Journal Articles

LGL Versus MGUS: Clonal Immune Pathogenetic Culprits in Hyporegenerative Anemias and Red Cell Aplasia

Carlos Bravo-Perez, Carmelo Gurnari, Zachary Brady, Arooj Ahmed, Matteo D'Addona, Luca Guarnera, Aashray Mandala, Christopher Haddad, Kartik Lakhotiya, Praveena Thiagarajan, Megan Nakashima, Hetty E. Carraway, Heesun J. Rogers, Arda Durmaz, Valeria Visconte, Jaroslaw Maciejewski

Blood (2024) 144 (Supplement 1): 5234.

https://doi.org/10.1182/blood-2024-209314

Published: 2024

Journal Articles

Budd-Chiari Syndrome: Pathogenetic Factors and Completeness of Screening for Paroxysmal Nocturnal Hemoglobinuria

Aashray Mandala, Carlos Bravo-Perez, Zachary Brady, Matteo D'Addona, Arda Durmaz, Mark Orland, Kartik Lakhotiya, Christopher Haddad, Praveena Thiagarajan, Valeria Visconte, Carmelo Gurnari, Jaroslaw Maciejewski

Blood (2024) 144 (Supplement 1): 1254.

https://doi.org/10.1182/blood-2024-211609

Published: 2024

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Multi‑omics analysis of Del20q reveals PHF20 haploinsufficiency and an HDAC2-centered epigenetic circuit in myeloid neoplasms

Novel approaches to identify cellular vulnerabilities in TET2-dependent MDS

Serum erythropoietin level as a selective pressure in clonal hematopoiesis: Insights into the mutational landscape of myeloid neoplasias

Machine learning uncovers invariant evolutionary molecular trajectories in MDS.

Epidemiologic clues, current management and diagnostic trends in idiopathic budd-chiari syndrome: Implications of PNH and diagnostic testing

Global immunopeptidome remodeling favors piga mutant clones in bone marrow failure

TP53 mutational spectrum and fitness landscape in myeloid neoplasia

Machine learning-derived, comprehensive “Geno-Immunome” of bone marrow failure syndromes reveals complex immunogenetic interactions with clinical implications

Exploring the spectrum of non-malignant complications in germline DDX41-associated hematologic disorders

Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits

A comparative analysis of epigenetic age acceleration across distinct hematopoietic clones in hematologic diseases

Invariant patterns of global mutational signatures allow new fundamental insights in etiopathogenesis of bone marrow failure including aplastic anemia and myelodysplasia

Autoimmunity against POLR3A and cytopenias in aplastic anemia and other bone marrow failure syndromes

Concurrent clonality of multiple hematopoietic lineages: Implications for pathogenesis and management of cytopenia

GLP‑1 receptor agonists and clonal hematopoiesis: Early human signals of anti‑inflammatory clone mitigation and lower MDS‑to‑AML progression

The basis for the differential impact of BCOR and BCORL1 in aplastic anemia/paroxysmal nocturnal hemoglobinuria and myeloid neoplasia

Genetic Determinants of Hypercoagulability in Complement and Hemostatic Systems Shape the Thrombotic Risk of Paroxysmal Nocturnal Hemoglobinuria

First Results of High Throughput Pipeline for Serotypic and TCR Clonotypic Specificities in Aplastic Anemia and Large Granular Lymphocyte Leukemia Uncovering Antigenic Peptides Relevant to Disease Etiology

LGL Versus MGUS: Clonal Immune Pathogenetic Culprits in Hyporegenerative Anemias and Red Cell Aplasia

Budd-Chiari Syndrome: Pathogenetic Factors and Completeness of Screening for Paroxysmal Nocturnal Hemoglobinuria

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