Beginning at the ends: telomeres and human disease [version 1; peer review: 4 approved] von Savage, Sharon A

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Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up von Alter, Blanche P, Giri, Neelam, Savage, Sharon A, Rosenberg, Philip S

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The genomics of inherited bone marrow failure: from mechanism to the clinic von Wegman‐Ostrosky, Talia, Savage, Sharon A.

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Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li‐Fraumeni syndrome cohort von Mai, Phuong L., Best, Ana F., Peters, June A., DeCastro, Rosamma M., Khincha, Payal P., Loud, Jennifer T., Bremer, Renée C., Rosenberg, Philip S., Savage, Sharon A.

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The Association of Telomere Length and Cancer: a Meta-analysis von WENTZENSEN, Ingrid M, MIRABELLO, Lisa, PFEIFFER, Ruth M, SAVAGE, Sharon A

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Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder von Glousker, Galina, Touzot, Fabien, Revy, Patrick, Tzfati, Yehuda, Savage, Sharon A.

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Cancer in dyskeratosis congenita von Alter, Blanche P., Giri, Neelam, Savage, Sharon A., Rosenberg, Philip S.

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Using Epidemiology and Genomics to Understand Osteosarcoma Etiology von Savage, Sharon A., Mirabello, Lisa

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The genetics and clinical manifestations of telomere biology disorders von Savage, Sharon A., Bertuch, Alison A.

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RTEL1 influences the abundance and localization of TERRA RNA von Ghisays, Fiorella, Garzia, Aitor, Wang, Hexiao, Canasto-Chibuque, Claudia, Hohl, Marcel, Savage, Sharon A., Tuschl, Thomas, Petrini, John H. J.

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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders von Walsh, Michael F, Chang, Vivian Y, Kohlmann, Wendy K, Scott, Hamish S, Cunniff, Christopher, Bourdeaut, Franck, Molenaar, Jan J, Porter, Christopher C, Sandlund, John T, Plon, Sharon E, Wang, Lisa L, Savage, Sharon A

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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma von Shi, Jianxin, Yang, Xiaohong R, Ballew, Bari, Rotunno, Melissa, Calista, Donato, Fargnoli, Maria Concetta, Ghiorzo, Paola, Bressac-de Paillerets, Brigitte, Nagore, Eduardo, Avril, Marie Francoise, Caporaso, Neil E, McMaster, Mary L, Cullen, Michael, Wang, Zhaoming, Zhang, Xijun, Bruno, William, Pastorino, Lorenza, Queirolo, Paola, Banuls-Roca, Jose, Garcia-Casado, Zaida, Vaysse, Amaury, Mohamdi, Hamida, Riazalhosseini, Yasser, Foglio, Mario, Jouenne, Fanélie, Hua, Xing, Hyland, Paula L, Yin, Jinhu, Vallabhaneni, Haritha, Chai, Weihang, Minghetti, Paola, Pellegrini, Cristina, Ravichandran, Sarangan, Eggermont, Alexander, Lathrop, Mark, Peris, Ketty, Scarra, Giovanna Bianchi, Landi, Giorgio, Savage, Sharon A, Sampson, Joshua N, He, Ji, Yeager, Meredith, Goldin, Lynn R, Demenais, Florence, Chanock, Stephen J, Tucker, Margaret A, Goldstein, Alisa M, Liu, Yie, Landi, Maria Teresa

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita von Ballew, Bari J., Yeager, Meredith, Jacobs, Kevin, Giri, Neelam, Boland, Joseph, Burdett, Laurie, Alter, Blanche P., Savage, Sharon A.

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

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H/ACA Small RNA Dysfunctions in Disease Reveal Key Roles for Noncoding RNA Modifications in Hematopoietic Stem Cell Differentiation von Bellodi, Cristian, McMahon, Mary, Contreras, Adrian, Juliano, Dayle, Kopmar, Noam, Nakamura, Tomoka, Maltby, David, Burlingame, Alma, Savage, Sharon A., Shimamura, Akiko, Ruggero, Davide

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Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita von Zhong, Franklin, Savage, Sharon A, Shkreli, Marina, Giri, Neelam, Jessop, Lea, Myers, Timothy, Chen, Renee, Alter, Blanche P, Artandi, Steven E

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Inflated expectations: Rare-variant association analysis using public controls von Kim, Jung, Karyadi, Danielle M, Hartley, Stephen W, Zhu, Bin, Wang, Mingyi, Wu, Dongjing, Song, Lei, Armstrong, Gregory T, Bhatia, Smita, Robison, Leslie L, Yasui, Yutaka, Carter, Brian, Sampson, Joshua N, Freedman, Neal D, Goldstein, Alisa M, Mirabello, Lisa, Chanock, Stephen J, Morton, Lindsay M, Savage, Sharon A, Stewart, Douglas R

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Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease von Sanchez, Santiago E., Gu, Yuchao, Wang, Yan, Golla, Anudeep, Martin, Annika, Shomali, William, Hockemeyer, Dirk, Savage, Sharon A., Artandi, Steven E.

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Telomere length is associated with disease severity and declines with age in dyskeratosis congenita von ALTER, Blanche P, ROSENBERG, Philip S, GIRI, Neelam, BAERLOCHER, Gabriela M, LANSDORP, Peter M, SAVAGE, Sharon A

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TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita von Savage, Sharon A., Giri, Neelam, Baerlocher, Gabriela M., Orr, Nick, Lansdorp, Peter M., Alter, Blanche P.

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