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Journal Articles

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

Blood blood.2024025023.

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

Published: 2024

Includes: Supplemental data

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

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

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

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

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 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

Clonal Hematopoiesis in Vexas Syndrome

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

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

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

Genomic-Based Machine Learning Towards Prediction of the Etiology of Bone Marrow Failure Syndromes

Blood (2021) 138 (Supplement 1): 2182.

https://doi.org/10.1182/blood-2021-151258

Published: 2021

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

Journal Articles

Clonal Hematopoiesis in Telomere Biology Disorders Associates with the Underlying Germline Defect and Somatic Mutations in POT1 , PPM1D, and TERT promoter

Fernanda Gutierrez-Rodrigues, Emma M Groarke, Diego V Clé, Bhavisha A. Patel, Flávia S Donaires, Nina Spitofsky, Lemlem Alemu, Bárbara A Santana, Sachiko Kajigaya, Simona Colla, Michel Michels De Oliveira, Carmem M. S. Bonfim, Rodrigo T. Calado, Neal S. Young

Blood (2021) 138 (Supplement 1): 1111.

https://doi.org/10.1182/blood-2021-151199

Published: 2021

Journal Articles

Clinical Utility of Plasma Cell-Free DNA for Detection and Quantification of Clonal Hematopoiesis

Fernanda Gutierrez-Rodrigues, PhD, Isabel Beerman, PhD, Emma M. Groarke, MD, Bhavisha A Patel, MD, Nina Spitofsky, Diego Quinones Raffo, MSc, Sachiko Kajigaya, PhD, Luigi Ferrucci, MD PhD, Neal S. Young, MD

Blood (2020) 136 (Supplement 1): 4–5.

https://doi.org/10.1182/blood-2020-139874

Published: 2020

Journal Articles

Outcomes in Pediatric Patients with Severe Aplastic Anemia Treated with Standard Immunosuppression and Eltrombopag

Emma M. Groarke, MD, Bhavisha A Patel, MD, Carrie Diamond, MD, Fernanda Gutierrez-Rodrigues, PhD, Alana Vicente, MD, Olga Rios, RN, Jennifer Lotter, PA-C, Daniela Baldoni, Ruba Shalhoub, Colin Wu, PhD, Neal S. Young, MD

Blood (2019) 134 (Supplement_1): 454.

https://doi.org/10.1182/blood-2019-124811

Published: 2019

Journal Articles

Telomere Elongation and Clinical Improvement in Telomeropathy Patients: A Prospective Clinical Trial of Nandrolone in Telomeropathies

Diego V Clé, MD PhD, Luiz Fernando Catto, MD, Luiz Guilherme Darrigo, PhD, Elvis Valera, Fernanda Gutierrez-Rodrigues, PhD, Flavia S. Donaires, PhD, André Pinto, Renan C. Albino, Bárbara Santana, Jose Baddini-Martinez, MD PhD, Rodrigo T. Calado, MD PhD

Blood (2019) 134 (Supplement_1): 2501.

https://doi.org/10.1182/blood-2019-130844

Published: 2019

NARROW

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

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

Distinct Immune and Molecular Profiles of Hepatitis-Associated Aplastic Anemia

Spectrum of clonal hematopoiesis in VEXAS syndrome

Differential diagnosis of bone marrow failure syndromes guided by machine learning

Eosinophilia in Vexas Syndrome: Expanding Hematologic Phenotype

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

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

Clonal Hematopoiesis in Vexas Syndrome

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

Genomic-Based Machine Learning Towards Prediction of the Etiology of Bone Marrow Failure Syndromes

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

Clonal Hematopoiesis in Telomere Biology Disorders Associates with the Underlying Germline Defect and Somatic Mutations in POT1 , PPM1D, and TERT promoter

Clinical Utility of Plasma Cell-Free DNA for Detection and Quantification of Clonal Hematopoiesis

Outcomes in Pediatric Patients with Severe Aplastic Anemia Treated with Standard Immunosuppression and Eltrombopag

Telomere Elongation and Clinical Improvement in Telomeropathy Patients: A Prospective Clinical Trial of Nandrolone in Telomeropathies

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American Society of Hematology

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American Society of Hematology

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