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

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Effect of pre-analytic variables on the reproducibility of qPCR relative telomere length measurement. by Casey L Dagnall, Belynda Hicks, Kedest Teshome, Amy A Hutchinson, Shahinaz M Gadalla, Payal P Khincha, Meredith Yeager, Sharon A Savage

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

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Characterization of sarcoma topography in Li-Fraumeni syndrome by Karin J. Brockman, Karin J. Brockman, Mone’t B. Thompson, Lisa Mirabello, Sharon A. Savage, Ashkan Malayeri, Jessica N. Hatton, Payal P. Khincha

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Living with rare genetic disease during the COVID-19 pandemic: A qualitative study of adolescents and young adults with Li-Fraumeni syndrome by Allison Werner-Lin, Payal P. Khincha, Ashley S. Thompson, Camella Rising, Alix Sleight, Catherine Wilsnack, Patrick Boyd, Alexandra Feldman, Rowan Forbes Shepherd, Sharon A. Savage

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A “rotating menu” of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study by Emily E. Pearce, Alina Majid, Toniya Brown, Catherine Wilsnack, Camella Rising, Ashley S. Thompson, Rowan Forbes Shepherd, Arman Niknafs, Allison Werner-Lin, Melissa B. Gilkey, Kurt M. Ribisl, Sadie P. Hutson, Paul K.J. Han, Sharon A. Savage

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“Crying in the Wilderness”—The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis by Emily Eidenier Pearce, Alina Majid, Toniya Brown, Rowan Forbes Shepherd, Camella Rising, Catherine Wilsnack, Ashley S Thompson, Melissa B Gilkey, Kurt M Ribisl, Allison J Lazard, Paul KJ Han, Allison Werner-Lin, Sadie P Hutson, Sharon A Savage

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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... by Shahinaz M. Gadalla, Hormuzd A. Katki, Tsung-Po Lai, Paul L. Auer, Casey L. Dagnall, Caitrin Bupp, Amy A. Hutchinson, James J. Anderson, Kyra J.W. Mendez, Stephen R. Spellman, Valerie Stewart, Sharon A. Savage, Stephanie J. Lee, John E. Levine, Wael Saber, Abraham Aviv

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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. by Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck, Megan M Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J Boulton, Sharon A Savage, John H J Petrini

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TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders by Kelvin César de Andrade, Emilia M. Pinto, Tianna Zhao, Logan P. Zeigler, Jung Kim, Neelam Giri, Jeremy S. Haley, Lisa J. McReynolds, Oscar Florez-Vargas, Aaron H. Phillips, Richard W. Kriwacki, Sherifa A. Akinniyi, Scott B. Cohen, Matthew R. Emerson, Diane T. Smelser, Gretchen M. Urban, Cintia Fridman, Gerard P. Zambetti, Tracy M. Bryan, David J. Carey, Christine Kim Garcia, Douglas R. Stewart, Sharon A. Savage

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