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Journal Articles

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

Blood blood.2025031248.

https://doi.org/10.1182/blood.2025031248

Published: 2025

Includes: Supplemental data

Journal Articles

Sustained donor engraftment and clinical remission after hematopoietic cell transplantation for vexas syndrome, but with observed toxicities: Results from a prospective phase II clinical Trial

Blood (2025) 146 (Supplement 1): 2514.

https://doi.org/10.1182/blood-2025-2514

Published: 2025

Journal Articles

Rare germline complement gene variants in severe aplastic anemia

Luca Arcuri, Emma Groarke, Ruba Shalhoub, Lemlem Alemu, Olga Rios, Diego Quinones Raffo, Joshua Glass, Sachiko Kajigaya, Pedro Prata, Carlo Dufour, Neal Young, Bhavisha Patel, Fernanda Gutierrez-Rodrigues

Blood (2025) 146 (Supplement 1): 1421.

https://doi.org/10.1182/blood-2025-1421

Published: 2025

Journal Articles

Interplay between mutant DNMT3A and UBA1 worsens survival through altered inflammatory and metabolic pathways

Blood (2025) 146 (Supplement 1): 3191.

https://doi.org/10.1182/blood-2025-3191

Published: 2025

Journal Articles

Characterization of the germline and somatic mutation profile of diamond-blackfan anemia

Luiz Catto, Fernanda Gutierrez-Rodrigues, Matthew Gianferante, Luiz Darrigo, Marília Catto, Xing Fan, Flavia Donaires, Neal Young, Sharon Savage, Neelam Giri, Rodrigo Calado, Cynthia Dunbar, David Young

Blood (2025) 146 (Supplement 1): 4993.

https://doi.org/10.1182/blood-2025-4993

Published: 2025

Journal Articles

Telomere attrition is common in patients with germline RUNX1 pathogenic variants

Rialnat Lawal, Fernanda Gutierrez-Rodrigues, David Young, Erica Bresciani, Emma Groarke, Natalie Deuitch, Molly McGuinness, Nan-Ping Weng, Paul Liu

Blood (2025) 146 (Supplement 1): 4991.

https://doi.org/10.1182/blood-2025-4991

Published: 2025

Journal Articles

Imputing causality from single-cell transcriptomics in paroxysmal nocturnal hemoglobinuria

Hiroki Mizumaki, Shouguo Gao, Zhijie Wu, Fernanda Gutierrez-Rodrigues, Lemlem Alemu, Diego Quinones Raffo, Olga Rios, Ivana Darden, Jennifer Lotter, Sachiko Kajigaya, Emma Groarke, Bhavisha Patel, Neal Young

Blood (2025) 146 (Supplement 1): 4980.

https://doi.org/10.1182/blood-2025-4980

Published: 2025

Journal Articles

Clinical and molecular features of immunodeficiency in patients with telomere biology disorders

Luiz Fernando Bazzo Catto, Nidhi Aggarwal, Ruba Shalhoub, Xiaoyang Ma, Ivana Darden, Tania Machado, Yue Zhang, Neelam R. Redekar, Natthakan Thongon, Simona Colla, Geraldine Aubert, Cynthia E. Dunbar, Colin O. Wu, Neal S. Young, Bhavisha A. Patel, Fernanda Gutierrez-Rodrigues, Emma M. Groarke

Blood (2025) 146 (10): 1187–1193.

https://doi.org/10.1182/blood.2024026735

Published: 2025

Includes: Supplemental data

Journal Articles

Clone wars: the expansion menace

Emma M. Groarke, Fernanda Gutierrez-Rodrigues

Blood (2025) 146 (9): 1032–1034.

https://doi.org/10.1182/blood.2025030068

Published: 2025

Journal Articles

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

Blood (2024) 144 (23): 2402–2416.

https://doi.org/10.1182/blood.2024025023

Published: 2024

Includes: Supplemental data

Journal Articles

Single-Cell Multi-Omics Analysis Reveals Dysfunctional Features of the Immune Responses in Vexas Syndrome

Hiroki Mizumaki, Shouguo Gao, Zhijie Wu, Xingmin Feng, Fernanda Gutierrez-Rodrigues, Lemlem Alemu, Diego Quinones Raffo, Ivana Darden, Sachiko Kajigaya, Emma M. Groarke, Neal S. Young, Bhavisha A. Patel

Blood (2024) 144 (Supplement 1): 4056.

https://doi.org/10.1182/blood-2024-198166

Published: 2024

Journal Articles

Longitudinal Contribution of Distinct Hematopoietic Clones during Marrow Recovery in Immune Aplastic Anemia

Fernanda Gutierrez-Rodrigues, Emma M. Groarke, Lemlem Alemu, Olga Rios, Diego Quinones Raffo, Jennifer Lotter, Neal S. Young, Bhavisha A. Patel

Blood (2024) 144 (Supplement 1): 32.

https://doi.org/10.1182/blood-2024-206215

Published: 2024

Journal Articles

Danazol Treatment for Telomere Biology Disorders: Long-Term Results of a Phase I/II Study

Nicholas C. Lee, Fernanda Gutierrez-Rodrigues, Ruba Shalhoub, Tania Rene Machado, Jennifer Lotter, Lemlem Alemu, Diego Quinones Raffo, Geraldine Aubert, Colin O. Wu, Bhavisha A. Patel, Neal S. Young, Emma M. Groarke

Blood (2024) 144 (Supplement 1): 439.

https://doi.org/10.1182/blood-2024-194335

Published: 2024

Journal Articles

Novel Germline ZCCHC8 Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q

Flavia S. Donaires, Sophie de Tocqueville, Marilia Bazzo Catto, Luiz Fernando Bazzo Catto, Emma M. Groarke, Barbara A. Santana, Settara C Chandrasekharappa, Frank X. Donovan, Carine Halfon-Domenech, Neal S. Young, Caroline Kannengiesser, Rodrigo T. Calado, Patrick Revy, Fernanda Gutierrez-Rodrigues

Blood (2024) 144 (Supplement 1): 1330.

https://doi.org/10.1182/blood-2024-205711

Published: 2024

Journal Articles

DNMT3A Mutant Clonal Hematopoiesis in Vexas Syndrome Epigenetically Potentiates IL-13 and IL-15 Inflammatory Pathways and Is Associated with Increased Mortality

Blood (2024) 144 (Supplement 1): 2686.

https://doi.org/10.1182/blood-2024-204334

Published: 2024

Journal Articles

Distinct Immune and Molecular Profiles of Hepatitis-Associated Aplastic Anemia

Roma V. Rajput, Dalton Hironaka, Ruba Shalhoub, Lemlem Alemu, Emma M. Groarke, Jennifer Lotter, Olga Rios, Ivana Darden, Colin O. Wu, Fernanda Gutierrez-Rodrigues, Xingmin Feng, Neal S. Young, Bhavisha A. Patel

Blood (2023) 142 (Supplement 1): 1340.

https://doi.org/10.1182/blood-2023-180902

Published: 2023

Journal Articles

Blood Count Recovery and Telomere Elongation in a TINF2 Patient Under Treatment with a Gonadotropin-Releasing Hormone (GnRH) Agonist

Fernanda Gutierrez-Rodrigues, Natthakan Thongon, Christopher L Williams, Simona Colla, Neal S. Young, Alison A. Bertuch

Blood (2023) 142 (Supplement 1): 2735.

https://doi.org/10.1182/blood-2023-190210

Published: 2023

Journal Articles

Spectrum of clonal hematopoiesis in VEXAS syndrome

Blood (2023) 142 (3): 244–259.

https://doi.org/10.1182/blood.2022018774

Published: 2023

Includes: Supplemental data

Journal Articles

Differential diagnosis of bone marrow failure syndromes guided by machine learning

Blood (2023) 141 (17): 2100–2113.

https://doi.org/10.1182/blood.2022017518

Published: 2023

Includes: Supplemental data

Journal Articles

DNMT3A/TET2 Mutant Clonal Hematopoiesis in Vexas Syndrome Results in DNA Hypomethylation and Transcriptional Activation of WT1 and MPL Oncogenic Pathways

Jenna A. Fernandez, Bhavisha A. Patel, Fernanda Gutierrez-Rodrigues, Yael Kusne, Terra Lasho, Christy Finke, Matthew Koster, Abhishek A. Mangaonkar, Naseema Gangat, Kenneth Warrington, Kaaren K. Reichard, Horatiu Olteanu, Peter C. Grayson, Neal S. Young, David B. Beck, Mrinal M. Patnaik

Blood (2022) 140 (Supplement 1): 11410–11411.

https://doi.org/10.1182/blood-2022-167359

Published: 2022

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Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

Sustained donor engraftment and clinical remission after hematopoietic cell transplantation for vexas syndrome, but with observed toxicities: Results from a prospective phase II clinical Trial

Rare germline complement gene variants in severe aplastic anemia

Interplay between mutant DNMT3A and UBA1 worsens survival through altered inflammatory and metabolic pathways

Characterization of the germline and somatic mutation profile of diamond-blackfan anemia

Telomere attrition is common in patients with germline RUNX1 pathogenic variants

Imputing causality from single-cell transcriptomics in paroxysmal nocturnal hemoglobinuria

Clinical and molecular features of immunodeficiency in patients with telomere biology disorders

Clone wars: the expansion menace

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

Single-Cell Multi-Omics Analysis Reveals Dysfunctional Features of the Immune Responses in Vexas Syndrome

Longitudinal Contribution of Distinct Hematopoietic Clones during Marrow Recovery in Immune Aplastic Anemia

Danazol Treatment for Telomere Biology Disorders: Long-Term Results of a Phase I/II Study

Novel Germline ZCCHC8 Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q

DNMT3A Mutant Clonal Hematopoiesis in Vexas Syndrome Epigenetically Potentiates IL-13 and IL-15 Inflammatory Pathways and Is Associated with Increased Mortality

Distinct Immune and Molecular Profiles of Hepatitis-Associated Aplastic Anemia

Blood Count Recovery and Telomere Elongation in a TINF2 Patient Under Treatment with a Gonadotropin-Releasing Hormone (GnRH) Agonist

Spectrum of clonal hematopoiesis in VEXAS syndrome

Differential diagnosis of bone marrow failure syndromes guided by machine learning

DNMT3A/TET2 Mutant Clonal Hematopoiesis in Vexas Syndrome Results in DNA Hypomethylation and Transcriptional Activation of WT1 and MPL Oncogenic Pathways

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American Society of Hematology

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