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Journal Articles

C-CBL mutations affecting residue 371 confer dismal prognosis in MDS and CMML

Luca Guarnera, Carmelo Gurnari, Zachary Brady, Carlos Bravo-Perez, Matteo D'Addona, Atsushi Marumo, Mark Orland, Praveena Thiagarajan, Serhan Unlu, Christopher Haddad, Aashray Mandala, Eleonora Lumia, Nicole Lelli, Arda Durmaz, Emiliano Fabiani, Maria Teresa Voso, Jaroslaw Maciejewski, Valeria Visconte

Blood (2025) 146 (Supplement 1): 2064.

https://doi.org/10.1182/blood-2025-2064

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

Germline alterations of hematopoietic growth factor receptors and maladaptive somatic genetic rescue leads to myeloid neoplasia

Serhan Unlu, Tariq Kewan, Christopher Haddad, Olisaemeka Ogbue, Asfand Yar Cheema, Zachary Brady, Mark Orland, Praveena Thiagarajan, Aashray Mandala, Matteo D'Addona, Luca Guarnera, Carlos Bravo-Perez, Carmelo Gurnari, Valeria Visconte, Arda Durmaz, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 5614.

https://doi.org/10.1182/blood-2025-5614

Published: 2025

Journal Articles

Etiologic heterogeneity in secondary hemophagocytic lymphohistiocytosis: A retrospective real-world study from a quaternary academic center

Asfand Yar Cheema, Akram Abushamma, Aashray Mandala, Mark Orland, Serhan Unlu, Carlos Bravo-Perez, Praveena Thiagarajan, Arda Durmaz, Zachary Brady, Carmelo Gurnari, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 6547.

https://doi.org/10.1182/blood-2025-6547

Published: 2025

Journal Articles

Navigating the complement cascade: A multicenter journey from pegcetacoplan to iptacopan in paroxysmal nocturnal hemoglobinuria

Praveena Thiagarajan, Mark Orland, Serhan Unlu, Arooj Ahmed, Carlos Bravo-Perez, Matteo D Addona, Megan Basch, Soyon Lee, Ver Bilano, Jincy Paulose, Lincy Geevarghese, Vamsi Bollu, Srinivasa Reddy Sanikommu, David Dingli, Jaroslaw Maciejewski, Carmelo Gurnari

Blood (2025) 146 (Supplement 1): 1433.

https://doi.org/10.1182/blood-2025-1433

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

Management of a real-world cohort of patients with paroxysmal nocturnal hemoglobinuria treated with iptacopan: A multi-institutional analysis

Mark Orland, Praveena Thiagarajan, Serhan Unlu, Arooj Ahmed, Carlos Bravo-Perez, Matteo D Addona, Megan Basch, Soyon Lee, Ver Bilano, Jincy Paulose, Lincy Geevarghese, Vamsi Bollu, David Dingli, Jaroslaw Maciejewski, Carmelo Gurnari

Blood (2025) 146 (Supplement 1): 1430.

https://doi.org/10.1182/blood-2025-1430

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

Real-world breakthrough hemolysis patterns across 1,723 patient-years of complement inhibition in paroxysmal nocturnal hemoglobinuria

Mark Orland, Aashray Mandala, Zachary Brady, Carlos Bravo-Perez, Praveena Thiagarajan, Serhan Unlu, Atsushi Marumo, Felipe Sartori, Valeria Visconte, Jaroslaw Maciejewski, Carmelo Gurnari

Blood (2025) 146 (Supplement 1): 3205.

https://doi.org/10.1182/blood-2025-3205

Published: 2025

Journal Articles

Sodium-glucose cotransporter-2 inhibitors may modulate complement pathway activation in paroxysmal nocturnal hemoglobinuria

Asfand Yar Cheema, Mishaal Munir, Aashray Mandala, Serhan Unlu, Mark Orland, Praveena Thiagarajan, Luca Guarnera, Akram Abushamma, Arda Durmaz, Zachary Brady, Carmelo Gurnari, Valeria Visconte, Jaroslaw Maciejewski

Blood (2025) 146 (Supplement 1): 3200.

https://doi.org/10.1182/blood-2025-3200

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

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

Novel Machine Learning Approaches Tailored to Protein Configuration Predict Drug Vulnerabilities in Myeloid Neoplasia

Arda Durmaz, Carlos Bravo-Perez, Zachary Brady, Matteo D'Addona, Luca Guarnera, Serhan Unlu, Hussein Awada, Praveena Thiagarajan, Yuriy Fedorov, Drew Adams, Carmelo Gurnari, Jacob G. Scott, Jaroslaw Maciejewski, Valeria Visconte

Blood (2024) 144 (Supplement 1): 4980.

https://doi.org/10.1182/blood-2024-208903

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

Journal Articles

Low-Count T-/NK-Large Granular Lymphocytic Leukemia: A Nosologically Distinct Disease Subtype at the Crossroads between Lymphoproliferation, Autoimmunity and Immunodeficiency

Carlos Bravo-Perez, Carmelo Gurnari, Arooj Ahmed, Naomi Kawashima, Zachary Brady, Matteo D'Addona, Luca Guarnera, Aashray Mandala, Kartik Lakhotiya, Christopher Haddad, Serhan Unlu, Mark Orland, Praveena Thiagarajan, Arda Durmaz, Valeria Visconte, Jaroslaw Maciejewski

Blood (2024) 144 (Supplement 1): 1688.

https://doi.org/10.1182/blood-2024-209437

Published: 2024

Journal Articles

A Real-Life Experience of Iptacopan in Paroxysmal Nocturnal Hemoglobinuria

Arooj Ahmed, Mark Orland, Praveena Thiagarajan, Megan Basch, Serhan Unlu, Carlos Bravo-Perez, Hussein Awada, Arda Durmaz, Carmelo Gurnari, Olga Lytvynova, Zachary Brady, Matteo D'Addona, Valeria Visconte, Jaroslaw Maciejewski

Blood (2024) 144 (Supplement 1): 5695.

https://doi.org/10.1182/blood-2024-211788

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

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

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C-CBL mutations affecting residue 371 confer dismal prognosis in MDS and CMML

Machine learning uncovers invariant evolutionary molecular trajectories in MDS.

Germline alterations of hematopoietic growth factor receptors and maladaptive somatic genetic rescue leads to myeloid neoplasia

Etiologic heterogeneity in secondary hemophagocytic lymphohistiocytosis: A retrospective real-world study from a quaternary academic center

Navigating the complement cascade: A multicenter journey from pegcetacoplan to iptacopan in paroxysmal nocturnal hemoglobinuria

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

Management of a real-world cohort of patients with paroxysmal nocturnal hemoglobinuria treated with iptacopan: A multi-institutional analysis

Global immunopeptidome remodeling favors piga mutant clones in bone marrow failure

Real-world breakthrough hemolysis patterns across 1,723 patient-years of complement inhibition in paroxysmal nocturnal hemoglobinuria

Sodium-glucose cotransporter-2 inhibitors may modulate complement pathway activation in paroxysmal nocturnal hemoglobinuria

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

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

Novel Machine Learning Approaches Tailored to Protein Configuration Predict Drug Vulnerabilities in Myeloid Neoplasia

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

Low-Count T-/NK-Large Granular Lymphocytic Leukemia: A Nosologically Distinct Disease Subtype at the Crossroads between Lymphoproliferation, Autoimmunity and Immunodeficiency

A Real-Life Experience of Iptacopan in Paroxysmal Nocturnal Hemoglobinuria

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

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

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