Publications by authors named "Alison A Bertuch"

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Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.
Sophie De Tocqueville, Flavia Donaires, Nicholas F DeCleene, Ibrahima Ba, Mina Nouri, Alison A Bertuch

Blood· November 2025

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The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia.
Nicholas F DeCleene, Duc T Nguyen, Susan E Kirk, Hannah L Helber, Ghadir S Sasa, Alison A Bertuch

Br J Haematol· September 2025

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Eltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial.
Akiko Shimamura, Alexey Maschan, Carolyn Bennett, Sujith Samarasinghe, Jason E Farrar, Alison A Bertuch

Blood Adv· August 2025

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Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Maria Isabel Achatz, Anita Villani, Alison A Bertuch, Gaëlle Bougeard, Vivian Y Chang

Clin Cancer Res· May 2025

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Ethosuximide-associated Aplastic Anemia Likely Due to Drug-induced Lupus Erythematosus: A Case Report With Immunologic Insights.
Nicholas J Dcunha, Olivia A Kwan, Sonali Sen, Gloria E Diaz-Medina, M Tarek Elghetany, Alison A Bertuch

J Pediatr Hematol Oncol· April 2025

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ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Christopher M Sande, Stone Chen, Dana V Mitchell, Ping Lin, Diana M Abraham, Alison A Bertuch

J Clin Invest· April 2025

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Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres.
Sharon A Savage, Alison A Bertuch,

Br J Haematol· January 2025

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Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy.
Luke D Maese, Marcin W Wlodarski, Sun Young Kim, Alison A Bertuch, Gaelle Bougeard

Clin Cancer Res· October 2024

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and , the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair.
Nicholas F DeCleene, Elif Asik, Anthony Sanchez, Christopher L Williams, Elena B Kabotyanski, Alison A Bertuch

bioRxiv· October 2024

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Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin.
Christopher T Peek, Manuel Silva-Carmona, Alison A Bertuch, Sarah K Nicholas, Tiphanie P Vogel

J Clin Immunol· September 2024

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Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
Michell M Lozano Chinga, Alison A Bertuch, Zeinab Afify, Kaylee Dollerschell, Joanne I Hsu

Am J Med Genet A· July 2023

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Hyperextended telomeres promote formation of C-circle DNA in telomerase positive human cells.
Celina Y Jones, Christopher L Williams, Sara Priego Moreno, Danna K Morris, Chiara Mondello, Alison A Bertuch

J Biol Chem· May 2023

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Genetics of human telomere biology disorders.
Patrick Revy, Caroline Kannengiesser, Alison A Bertuch

Nat Rev Genet· February 2023

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Hyperextended telomeres promote C-circle formation in telomerase positive human cells.
Celina Y Jones, Christopher L Williams, Sara P Moreno, Danna K Morris, Chiara Mondello, Alison A Bertuch

bioRxiv· January 2023

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Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities.
Timothy S Olson, Benjamin F Frost, Jamie L Duke, Marian Dribus, Hongbo M Xie, Alison A Bertuch

JCI Insight· November 2022

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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, Alison A Bertuch

Blood· August 2022

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The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
Runjun D Kumar, Mustafa Tosur, Seema R Lalani, Donald H Mahoney, Alison A Bertuch

Am J Med Genet A· July 2022

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Hematologic complications with age in Shwachman-Diamond syndrome.
Elissa Furutani, Shanshan Liu, Ashley Galvin, Sarah Steltz, Maggie M Malsch, Alison A Bertuch

Blood Adv· January 2022

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Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Emilia J Kozyra, Gudrun Göhring, Dennis D Hickstein, Katherine R Calvo, Courtney D DiNardo, Alison A Bertuch

Blood· December 2021

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Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.
Kristin A Shimano, Anupama Narla, Melissa J Rose, Nicholas J Gloude, Steven W Allen, Alison A Bertuch

Am J Hematol· November 2021

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Hematopoiesis under telomere attrition at the single-cell resolution.
Natthakan Thongon, Feiyang Ma, Andrea Santoni, Matteo Marchesini, Elena Fiorini, Alison A Bertuch

Nat Commun· November 2021

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Expansion of the clinical phenotype of GALE deficiency.
Rebecca Markovitz, Nichole Owen, Lisa Forbes Satter, Susan Kirk, Donald H Mahoney, Alison A Bertuch

Am J Med Genet A· October 2021

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Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Ryan W Himes, Eric H Chiou, Karen Queliza, Dror S Shouval, Raz Somech, Alison A Bertuch

J Pediatr· March 2021

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Identification and characterization of novel variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.
Gabrielle Henslee, Christopher L Williams, Pengfei Liu, Alison A Bertuch

Cold Spring Harb Mol Case Stud· February 2021

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Telomere dysfunction activates YAP1 to drive tissue inflammation.
Deepavali Chakravarti, Baoli Hu, Xizeng Mao, Asif Rashid, Jiexi Li, Alison A Bertuch

Nat Commun· September 2020

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