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Journal Articles

Telomere Length Testing of Lymphocytes Alone By Flow-FISH Is a Highly Sensitive and Specific Test to Screen for a Telomere Biology Disorder in a Cohort of Children and Very Young Adults with Bone Marrow Failure

Nicholas F. DeCleene, Duc T. Nguyen, Susan E. Kirk, Hannah L. Helber, Ghadir S. Sasa, Alison A. Bertuch

Blood (2023) 142 (Supplement 1): 4108.

https://doi.org/10.1182/blood-2023-190629

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

RPS19 and RPL5 Contribute to DNA Double-Strand Break Repair

Nicholas F. DeCleene, Elif Asik, Anthony Sanchez, Nimrat Chatterjee, Kyle M. Miller, Yu-Hsiu Wang, Alison A. Bertuch

Blood (2023) 142 (Supplement 1): 1358.

https://doi.org/10.1182/blood-2023-189602

Published: 2023

Journal Articles

Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita

Seunga Choo, Franziska K. Lorbeer, Samuel G. Regalado, Sarah B. Short, Shannon Wu, Gabrielle Rieser, Alison A. Bertuch, Dirk Hockemeyer

Blood (2022) 140 (6): 608–618.

https://doi.org/10.1182/blood.2021013750

Published: 2022

Includes: Supplemental data

Journal Articles

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Blood (2021) 138 (23): 2441–2445.

https://doi.org/10.1182/blood.2021012781

Published: 2021

Includes: Supplemental data

Journal Articles

Genetic Dissection of Dyskeratosis Congenita-Causing Mutations in TINF2 Using Human Pluripotent and Hematopoietic Stem Cell Models

Seunga Choo, Franziska K. Lorbeer, Samuel G. Regalado, Sarah B. Short, Shannon Wu, Gabrielle Rieser, Alison A. Bertuch, Dirk Hockemeyer

Blood (2021) 138 (Supplement 1): 2178.

https://doi.org/10.1182/blood-2021-149798

Published: 2021

Journal Articles

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Alyssa L. Kennedy, MDPhD, Kasiani C. Myers, MD, James Bowman, PhD, Christopher J. Gibson, MD, Gwen M. Muscato, Robert Klein, Kaitlyn Ballotti, Nicholas Camarda, Elissa M. Furutani, MD, Chad E. Harris, MS, Shanshan Liu, PhD, Ashley Galvin, Maggie Malsch, MSN, RN, David C. Dale, MD, John M Gansner, MD PhD, Taizo A. Nakano, MD, Alison A. Bertuch, MD, Adrianna Vlachos, MD, Jeff H. Lipton, MD PhD, Paul Castillo, MD, James Connelly, John Edwards, MD, Nobuko Hijiya, MD, Richard Ho, MD, Inga Hofmann, MD, James N Huang, MD, Sioban B. Keel, MD, Adam J. Lamble, MD, Bonnie W Lau, MD PhD, Kelly J. Walkovich, MD, Maxim Norkin, MD, Wendy Stock, MD, Steffen Boettcher, Christian Brendel, PhD, Elliot Stieglitz, MD, Mark D. Fleming, MD DPhil, Stella M. Davies, PhD MBBS, MRCP, Edie A. Weller, Chris Bahl, PhD, Scott L. Carter, PhD, Akiko Shimamura, MD PhD, R. Coleman Lindsley, MD PhD

Blood (2020) 136 (Supplement 1): 35–36.

https://doi.org/10.1182/blood-2020-137125

Published: 2020

Journal Articles

Towards Identifying the Target of Autoimmunity in Aplastic Anemia

Benjamin F Frost, BSc, Jamie Duke, PhD, Hongbo Xie, PhD, Deborah Ferriola, BSc, Joseph H Oved, MD MA, Peter Nicholas, BA, Jian-Meng Fan, BS, Ryan Hausler, MS, Alison A. Bertuch, MD PhD, Elissa M. Furutani, MD, Akiko Shimamura, MD PhD, Stephanie J. Lee, MDMPH, Stephen R. Spellman, MS, Dimitri S. Monos, PhD, Timothy S. Olson, MD PhD, Daria V. Babushok, MD PhD

Blood (2020) 136 (Supplement 1): 2.

https://doi.org/10.1182/blood-2020-136772

Published: 2020

Journal Articles

Cells Deficient in the Shwachman-Diamond Syndrome Protein SBDS or the Diamond-Blackfan Anemia Protein RPS19 Have Impaired Homologous Recombination

Elif Asik, PhD, Nimrat Chatterjee, PhD, Alison A. Bertuch, MD PhD

Blood (2019) 134 (Supplement_1): 104.

https://doi.org/10.1182/blood-2019-128953

Published: 2019

Journal Articles

The Shwachman-Diamond Syndrome Registry: Hematologic Complications

Kasiani C. Myers, MD, Elissa Muse Furutani, MD, Sara Loveless, BSN, Maggie Malsch, MSN, RN, Ashley Galvin, Ellie Fratt, Jordan Larson, Jacob Cotton, Leah Cheng, Kelly McIntosh, Joan Moore, RN, Leann Mount, RN, Rabi Hanna, MD, Winfred Wang, MD, Alison A. Bertuch, MD PhD, Stella M. Davies, PhD MBBS, MRCP, Akiko Shimamura, MD PhD

Blood (2018) 132 (Supplement 1): 3871.

https://doi.org/10.1182/blood-2018-99-117582

Published: 2018

Journal Articles

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Blood (2018) 132 (Supplement 1): 5849.

https://doi.org/10.1182/blood-2018-99-118979

Published: 2018

Journal Articles

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Blood (2018) 132 (6): 658–662.

https://doi.org/10.1182/blood-2017-12-824433

Published: 2018

Includes: Supplemental data

Journal Articles

Somatic mutations and clonal hematopoiesis in congenital neutropenia

Blood (2018) 131 (4): 408–416.

https://doi.org/10.1182/blood-2017-08-801985

Published: 2018

Includes: Supplemental data

Journal Articles

Outcomes of Immunosuppressive Therapy for Pediatric Aplastic Anemia: A North American Pediatric Aplastic Anemia Consortium (NAPAAC) Study

Blood (2017) 130 (Supplement 1): 1168.

https://doi.org/10.1182/blood.V130.Suppl_1.1168.1168

Published: 2017

Journal Articles

A Novel Radiosensitivity Phenotype in Shwachman-Diamond Syndrome Is Mediated By ER Stress Response

Nimrat Chatterjee, PhD, Christopher Lee Williams, B.S., Saleh Bhar, MD, Alison A Bertuch, MD PhD

Blood (2015) 126 (23): 3618.

https://doi.org/10.1182/blood.V126.23.3618.3618

Published: 2015

Journal Articles

A Targeted Next-Generation Sequencing Mutation Panel for Pediatric Acute Myeloid Leukemia and Myelodysplastic Syndrome (MDS) Detects Potential Additional Driver Mutations in Pediatric GATA2 -MDS

Kevin E Fisher, MD PhD, Hadi Sayeed, MS, Dolores Lopez-Terrada, MD PhD, Alison A Bertuch, MD PhD, Maria Monica Gramatges, MD PhD

Blood (2015) 126 (23): 1679.

https://doi.org/10.1182/blood.V126.23.1679.1679

Published: 2015

Journal Articles

Matched Unrelated Allogeneic Stem Cell Transplantation for Patients with Congenital Amegakaryocytic Thrombocytopenia: Texas Children`s Hospital Experience

Saleh Bhar, MD, Khaled Yassine, MD, Caridad Martinez, MD, Ghadir S. Sasa, MD, Swati Naik, MD, Donald Mahoney, Jr., MD, Alison A Bertuch, MD PhD, Carl Allen, MD PhD, Nabil Ahmed, MD, Meenakshi G. Hegde, MD, Helen E. Heslop, MD, Malcolm K. Brenner, MD PhD, Stephen Gottschalk, MD, Robert A. Krance, MD, Kathryn S. Leung

Blood (2015) 126 (23): 5529.

https://doi.org/10.1182/blood.V126.23.5529.5529

Published: 2015

Journal Articles

A new mutant at the end: TPP1, telomeres, and BMF

Alison A. Bertuch

Blood (2014) 124 (18): 2757–2758.

https://doi.org/10.1182/blood-2014-09-599688

Published: 2014

Journal Articles

Constitutional Telomerase-Associated Gene Variants In Pediatric Acute Myeloid Leukemia (AML) and In Association With Chemotherapy-Related Toxicities

M. Monica Gramatges, MD, Ghadir S. Sasa, MD, Robert B. Gerbing, MA, Eunji Jo, MS, Todd A. Alonzo, PhD, Charlotte H Ahern, PhD, Soheil Meshinchi, MD, PhD, Alison A. Bertuch, MD, PhD

Blood (2013) 122 (21): 1310.

https://doi.org/10.1182/blood.V122.21.1310.1310

Published: 2013

Journal Articles

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

Maria M. Gramatges, Xiaodong Qi, Ghadir S. Sasa, Julian J.-L. Chen, Alison A. Bertuch

Blood (2013) 121 (18): 3586–3593.

https://doi.org/10.1182/blood-2012-08-447755

Published: 2013

Includes: Supplemental data

NARROW

Telomere Length Testing of Lymphocytes Alone By Flow-FISH Is a Highly Sensitive and Specific Test to Screen for a Telomere Biology Disorder in a Cohort of Children and Very Young Adults with Bone Marrow Failure

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

RPS19 and RPL5 Contribute to DNA Double-Strand Break Repair

Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Genetic Dissection of Dyskeratosis Congenita-Causing Mutations in TINF2 Using Human Pluripotent and Hematopoietic Stem Cell Models

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Towards Identifying the Target of Autoimmunity in Aplastic Anemia

Cells Deficient in the Shwachman-Diamond Syndrome Protein SBDS or the Diamond-Blackfan Anemia Protein RPS19 Have Impaired Homologous Recombination

The Shwachman-Diamond Syndrome Registry: Hematologic Complications

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Somatic mutations and clonal hematopoiesis in congenital neutropenia

Outcomes of Immunosuppressive Therapy for Pediatric Aplastic Anemia: A North American Pediatric Aplastic Anemia Consortium (NAPAAC) Study

A Novel Radiosensitivity Phenotype in Shwachman-Diamond Syndrome Is Mediated By ER Stress Response

A Targeted Next-Generation Sequencing Mutation Panel for Pediatric Acute Myeloid Leukemia and Myelodysplastic Syndrome (MDS) Detects Potential Additional Driver Mutations in Pediatric GATA2 -MDS

Matched Unrelated Allogeneic Stem Cell Transplantation for Patients with Congenital Amegakaryocytic Thrombocytopenia: Texas Children`s Hospital Experience

A new mutant at the end: TPP1, telomeres, and BMF

Constitutional Telomerase-Associated Gene Variants In Pediatric Acute Myeloid Leukemia (AML) and In Association With Chemotherapy-Related Toxicities

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

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American Society of Hematology

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