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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

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

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

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

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

Clonal Hematopoiesis in a Broad Age Spectrum of Systemic Vasculitis

Fernanda Gutierrez-Rodrigues, Adrianna I. Jones, Kristina Wells, Dalton Hironaka, Cameron Rankin, Keith A Sikora, Kaitlin Quinn, Marcela Ferrada, Bhavisha A. Patel, Peter C. Grayson, Neal S. Young

Blood (2022) 140 (Supplement 1): 8596–8597.

https://doi.org/10.1182/blood-2022-160327

Published: 2022

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

Journal Articles

Characterizing Immunodeficiency in Patients with Telomere Biology Disorders

Nidhi Aggarwal, Xiaoyang Ma, Fernanda Gutierrez-Rodrigues, Ruba Shalhoub, Ivana Darden, Bhavisha A. Patel, Colin O. Wu, Neal S. Young, Emma M. Groarke

Blood (2022) 140 (Supplement 1): 5826–5827.

https://doi.org/10.1182/blood-2022-163264

Published: 2022

Journal Articles

The Role of Heterozygous Variants in SAMD9/9L and Recessive Bone Marrow Failure-Related Genes in Adults with Severe Aplastic Anemia

Dalton Hironaka, Xiaoyang Ma, Bhavisha A. Patel, Emma M. Groarke, Jennifer Lotter, Olga Rios, Juan L Coelho-Silva, Colin O. Wu, Jorg Cammenga, Fernanda Gutierrez-Rodrigues, Neal S. Young

Blood (2022) 140 (Supplement 1): 479–480.

https://doi.org/10.1182/blood-2022-162886

Published: 2022

Journal Articles

Clonal Hematopoiesis in Vexas Syndrome

Blood (2022) 140 (Supplement 1): 5745–5746.

https://doi.org/10.1182/blood-2022-160263

Published: 2022

Journal Articles

Eosinophilia in Vexas Syndrome: Expanding Hematologic Phenotype

Ashvind Anand Prabahran, Fernanda Gutierrez-Rodrigues, Serene Ahmad, Edward W Cowen, Ivana Darden, Emma M. Groarke, Marcela Ferrada, Peter C. Grayson, Amy D Klion, Katherine R. Calvo, Irina Maric, Neal S. Young, Bhavisha A. Patel

Blood (2022) 140 (Supplement 1): 2607–2608.

https://doi.org/10.1182/blood-2022-160287

Published: 2022

Journal Articles

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Blood (2022) 140 (13): 1496–1506.

https://doi.org/10.1182/blood.2022016985

Published: 2022

Includes: Supplemental data

Journal Articles

Long-term outcomes in patients with severe aplastic anemia treated with immunosuppression and eltrombopag: a phase 2 study

Bhavisha A. Patel, Emma M. Groarke, Jennifer Lotter, Ruba Shalhoub, Fernanda Gutierrez-Rodrigues, Olga Rios, Diego Quinones Raffo, Colin O. Wu, Neal S. Young

Blood (2022) 139 (1): 34–43.

https://doi.org/10.1182/blood.2021012130

Published: 2022

Includes: Supplemental data

Journal Articles

Strong Predictors of Chromosomal Aberrations and Myeloid Neoplasia Following Immunosuppression Therapy for Severe Aplastic Anemia: A Retrospective Cohort Study

Emma M. Groarke, Bhavisha A. Patel, Ruba Shalhoub, Fernanda Gutierrez-Rodrigues, Parth Desai, Harshraj Leuva, Casey Paton, Nina Spitofsky, Jennifer Lotter, Olga Rios, Richard W. Childs, David J. Young, Alina Dulau-Florea, Cynthia E. Dunbar, Katherine R. Calvo, Colin O. Wu, Neal S. Young

Blood (2021) 138 (Supplement 1): 601.

https://doi.org/10.1182/blood-2021-146070

Published: 2021

Journal Articles

U2AF1 and Other Splicing Factor Gene Mutations in Telomere Biology Disorders Are Associated with Hematologic Neoplasia and Worse Overall Survival

Emma M. Groarke, Fernanda Gutierrez-Rodrigues, Xiaoyang Ma, Bhavisha A. Patel, Nina Spitofsky, Paul V. Browne, Kelly S. Chien, Colin O. Wu, Courtney D. DiNardo, Simona Colla, Rodrigo T. Calado, Neal S. Young

Blood (2021) 138 (Supplement 1): 862.

https://doi.org/10.1182/blood-2021-146946

Published: 2021

NARROW

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

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

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

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

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

Clonal Hematopoiesis in a Broad Age Spectrum of Systemic Vasculitis

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

Characterizing Immunodeficiency in Patients with Telomere Biology Disorders

The Role of Heterozygous Variants in SAMD9/9L and Recessive Bone Marrow Failure-Related Genes in Adults with Severe Aplastic Anemia

Clonal Hematopoiesis in Vexas Syndrome

Eosinophilia in Vexas Syndrome: Expanding Hematologic Phenotype

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Long-term outcomes in patients with severe aplastic anemia treated with immunosuppression and eltrombopag: a phase 2 study

Strong Predictors of Chromosomal Aberrations and Myeloid Neoplasia Following Immunosuppression Therapy for Severe Aplastic Anemia: A Retrospective Cohort Study

U2AF1 and Other Splicing Factor Gene Mutations in Telomere Biology Disorders Are Associated with Hematologic Neoplasia and Worse Overall Survival

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American Society of Hematology

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ASH Publications

American Society of Hematology

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