Publications by authors named "Sharon Savage"

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Germline Pathogenic Variants in MUTYH Are Associated With Inferior Survival After Hematopoietic Cell Transplantation in Patients With Hematologic Malignancies or Disorders.
Maryam Rafati, Youjin Wang, Ashwin L Koppayi, Sharon A Savage, Lucy A Godley

Am J Hematol· December 2025

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Trends in Childhood and Adolescent Cancer Incidence Rates in the United States between 2001 and 2022.
Meredith S Shiels, Anika T Haque, Rena R Jones, Cari M Kitahara, John W Glod, Sharon A Savage

Cancer Discov· December 2025

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A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Cristina Fortuno, Megan N Frone, Jessica Mester, Miguel de la Hoya, Phuong L Mai, Sharon A Savage

Genome Med· October 2025

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Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder.
Logan P Zeigler, Oscar Florez-Vargas, Burak Altintas, Marena R Niewisch, Weiyin Zhou, Sharon A Savage

HGG Adv· October 2025

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Telomeres and Human Disease.
Sharon A Savage

Cold Spring Harb Perspect Biol· September 2025

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SMARCAL1 is a new osteosarcoma predisposition gene.
Maryam Rafati, Lillian M Guenther, Laura E Egolf, D Matthew Gianferante, Jung Kim, Sharon A Savage

J Natl Cancer Inst· September 2025

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hTERT Increases TRF2 to Induce Telomere Compaction and Extend Cell Replicative Lifespan.
Nancy Adam, Yang Yang, Mahbod Djamshidi, Sara Seifan, Nicholas S Y Ting, Sharon A Savage

Aging Cell· August 2025

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Polygenic modifiers impact penetrance and expressivity in telomere biology disorders.
Michael Poeschla, Uma P Arora, Amanda Walne, Lisa J McReynolds, Marena R Niewisch, Sharon A Savage

J Clin Invest· August 2025

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Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders.
Arman M Niknafs, Neelam Giri, Marena R Niewisch, Sharon A Savage

Clin Genet· August 2025

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Peripheral blood DNA methylation predicts the early onset of primary tumor in TP53 mutation carriers.
Vallijah Subasri, Benjamin Brew, Brianne Laverty, Lauren Erdman, Tanya Guha, Sharon A Savage

Nat Commun· August 2025

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Author Correction: Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential.
Oscar Florez-Vargas, Michelle Ho, Maxwell H Hogshead, Brenen W Papenberg, Chia-Han Lee, Sharon A Savage

Nat Commun· August 2025

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Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.
Hasset T Nurelegne, Mone't B Thompson, Kelvin C de Andrade, Ashley S Thompson, Lisa J McReynolds, Sharon A Savage

Mol Genet Genomic Med· June 2025

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TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.
Kelvin César de Andrade, Emilia M Pinto, Tianna Zhao, Logan P Zeigler, Jung Kim, Sharon A Savage

NPJ Genom Med· June 2025

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Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
Malin Kvarnung, Maria Pettersson, Pattra Chun-On, Maryam Rafati, Lisa J McReynolds, Sharon A Savage

Eur J Hum Genet· May 2025

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Donor telomeres and their magnitude of shortening post-allogeneic haematopoietic cell transplant impact survival for patients with early-stage leukaemia or myelodysplastic syndrome.
Shahinaz M Gadalla, Hormuzd A Katki, Tsung-Po Lai, Paul L Auer, Casey L Dagnall, Sharon A Savage

EBioMedicine· April 2025

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Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.
Adrián Sanz-Moreno, Lore Becker, Kan Xie, Patricia da Silva-Buttkus, Nathalia R V Dragano, Sharon A Savage

Sci Adv· April 2025

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Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential.
Oscar Florez-Vargas, Michelle Ho, Maxwell H Hogshead, Brenen W Papenberg, Chia-Han Lee, Sharon A Savage

Nat Commun· February 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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An international core outcome set for primary progressive aphasia (COS-PPA): Consensus-based recommendations for communication interventions across research and clinical settings.
Anna Volkmer, Emily Viega Alves, Hagit Bar-Zeev, Elena Barbieri, Petronilla Battista, Sharon Savage

Alzheimers Dement· January 2025

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A "rotating menu" of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study.
Emily Pearce, Alina Majid, Toniya Brown, Catherine Wilsnack, Camella Rising, Sharon A Savage

SSM Qual Res Health· December 2024

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Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Marena R Niewisch, Jung Kim, Neelam Giri, Judith C Lunger, Lisa J McReynolds, Sharon A Savage

JAMA Netw Open· December 2024

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"Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.
Emily Eidenier Pearce, Alina Majid, Toniya Brown, Rowan Forbes Shepherd, Camella Rising, Sharon A Savage

JMIR Form Res· December 2024

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Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
D Matthew Gianferante, Kyra J W Mendez, Sarah Cole, Shahinaz M Gadalla, Blanche P Alter, Sharon A Savage

EJHaem· December 2024

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Characterization of sarcoma topography in Li-Fraumeni syndrome.
Karin J Brockman, Mone't B Thompson, Lisa Mirabello, Sharon A Savage, Ashkan Malayeri

Front Oncol· November 2024

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Genetic regulation of splicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential.
Oscar Florez-Vargas, Michelle Ho, Maxwell Hogshead, Chia-Han Lee, Brenen W Papenberg, Sharon A Savage

medRxiv· November 2024

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