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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

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

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

Constitutional Telomerase-Associated Gene Variants in Pediatric Acute Myeloid Leukemia (AML)

M. Monica Gramatges, MD, Ghadir S. Sasa, MD, Xiaodong Qi, Julian J-L Chen, PhD, Sharon E Plon, MD, PhD, Alison A. Bertuch, MD, PhD

Blood (2012) 120 (21): 1408.

https://doi.org/10.1182/blood.V120.21.1408.1408

Published: 2012

Journal Articles

A Homozygous Telomerase Reverse Transcriptase T Motif Variant Resulting in Markedly Reduced Telomerase Repeat Addition Processivity in Siblings with Hoyeraal Hreidarsson Syndrome

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

Blood (2012) 120 (21): 1272.

https://doi.org/10.1182/blood.V120.21.1272.1272

Published: 2012

Journal Articles

Constitutional Telomerase-Associated Gene Variants Associated with Chemotherapy-Related Toxicities in Pediatric Acute Myeloid Leukemia (AML)

M. Monica Gramatges, MD, Todd A. Alonzo, PhD, Robert B. Gerbing, M.A., Alison A. Bertuch, MD, PhD, Soheil Meshinchi, MD, PhD

Blood (2012) 120 (21): 1403.

https://doi.org/10.1182/blood.V120.21.1403.1403

Published: 2012

Journal Articles

High-Sensitivity Flow Cytometry Testing for Paroxysmal Nocturnal Hemoglobinuria in Children with Cytopenia: A Single Center Study

Choladda V. Curry, MD, M. Tarek Elghetany, MD, Andrea M. Sheehan, MD, Alison A. Bertuch, MD, PhD, Ghadir S. Sasa, MD

Blood (2011) 118 (21): 2398.

https://doi.org/10.1182/blood.V118.21.2398.2398

Published: 2011

Journal Articles

Clinical and Molecular Characterization of Germline Telomerase Reverse Transcriptase ( TERT ) Variants in Children with Acute Myeloid Leukemia (AML),

M. Monica Gramatges, MD, Ghadir S. Sasa, MD, Sharon E Plon, MD, PhD, Alison A. Bertuch, MD, PhD

Blood (2011) 118 (21): 3571.

https://doi.org/10.1182/blood.V118.21.3571.3571

Published: 2011

Journal Articles

Primary Myelofibrosis In Children

Melissa R. DeLario, MD, Andrea Sheehan, MD, Ramona Ataya, MD, Alison A. Bertuch, MD, PhD, Carlos Vega, MS, MBA, MB(ASCP), C. Renee Webb, BS, Dolores lopez-Terrada, MD, Lakshmi Venkateswaran

Blood (2010) 116 (21): 3079.

https://doi.org/10.1182/blood.V116.21.3079.3079

Published: 2010

NARROW

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

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

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

Constitutional Telomerase-Associated Gene Variants in Pediatric Acute Myeloid Leukemia (AML)

A Homozygous Telomerase Reverse Transcriptase T Motif Variant Resulting in Markedly Reduced Telomerase Repeat Addition Processivity in Siblings with Hoyeraal Hreidarsson Syndrome

Constitutional Telomerase-Associated Gene Variants Associated with Chemotherapy-Related Toxicities in Pediatric Acute Myeloid Leukemia (AML)

High-Sensitivity Flow Cytometry Testing for Paroxysmal Nocturnal Hemoglobinuria in Children with Cytopenia: A Single Center Study

Clinical and Molecular Characterization of Germline Telomerase Reverse Transcriptase ( TERT ) Variants in Children with Acute Myeloid Leukemia (AML),

Primary Myelofibrosis In Children

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