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S

Sharon A. Savage

National Institutes of Health

76H-index
574Paper Count
2.3WCitation Count
Published Papers 171
Publication Date
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Detailed Assessment of Rare and Common TERT Variation in a Family with a Telomere Biology Disorder
errHuman Genetics and Genomics Advances
IF3.6
err2025-10-25
err0
errOAAI
errLogan P. Zeigler; Oscar Florez-Vargas; Burak Altintas; Marena R. Niewisch; Weiyin Zhou; Neelam Giri; Maryam Rafati; Michael Poeschla; Vijay G. Sankaran; Tsung-Po Lai; Abraham Aviv; Kristine Jones; Wen Luo; Jia Liu; Lisa J. McReynolds; Tianna Zhao; Ludmila Prokunina-Olsson; Sharon A. Savage
errShare
errSave
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
errGenome Medicine
IF11.2
err2025-10-24
err0
errOAAI
errCristina Fortuno; Megan N. Frone; Jessica Mester; Miguel de la Hoya; Phuong L. Mai; Tina Pesaran; Maria Isabel Achatz; Rebecca Bassett; Carolina Bustamante; Stephanie Crowley; Kelvin Cesar de Andrade; D. Gareth Evans; Bingjian Feng; Laura Fuqua; Maria Isabel Harrell; Jessica N. Hatton; Robert Huether; Chimene Kesserwan; Kristy Lee; Suzanne P. MacFarland; Jamie L. Maciaszek; Kara Maxwell; Kelly McGoldrick; Maureen Murphy; Bita Nehoray; Judith Penkert; Emilia Modolo Pinto; Sharon E. Plon; Alison Schwartz-Levine; Ashley S. Thompson; Wenyi Wang; Gerard P. Zambetti; Kristin Zelley; Paul A. James; Sharon A. Savage; Christian P. Kratz; Amanda B. Spurdle
errShare
errSave
Germline Pathogenic Variants in MUTYH Are Associated With Inferior Survival After Hematopoietic Cell Transplantation in Patients With Hematologic Malignancies or Disorders
errAmerican Journal of Hematology
IF9.9
err2025-10-03
err0
errOAAI
errMaryam Rafati; Youjin Wang; Ashwin L. Koppayi; Sharon A. Savage; Lucy A. Godley; Kirsten M. Williams; Christopher Porter; Kristine Jones; Belynda Hicks; Stephen R. Spellman; Meilun He; Rasha Atshan; Caidon Iwuagwu; Yung-Tsi Bolon; Esteban Arrieta-Bolaños; Jennifer N. Saultz; Cara L. Benjamin; Stephanie J. Lee; Wael Saber; Shahinaz M. Gadalla
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errSave
Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders
errClinical Genetics
IF2.3
err2025-08-05
err0
errOAAI
errArman M. Niknafs; Neelam Giri; Marena R. Niewisch; Sharon A. Savage
errShare
errSave
hTERT Increases TRF2 to Induce Telomere Compaction and Extend Cell Replicative Lifespan
errAGING CELL
IF7.1
err2025-05-15
err0
errOAAI
errAdam, N; Yang, Y; Djamshidi, M; Seifan, S; Ting, NSY; Glover, J; Touret, N; Gordon, PMK; Warriyar, KVV; Krowicki, H; Garcia, CK; Savage, SA; Goodarzi, AA; Baird, DM; Beattie, TL; Riabowol, K
errShare
errSave
Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
errSCIENCE ADVANCES
IF12.5
err2025-04-11
err0
errOAAI
errSanz-Moreno, Adrian; Becker, Lore; Xie, Kan; da Silva-Buttkus, Patricia; Dragano, Nathalia R. V.; Aguilar-Pimentel, Antonio; Amarie, Oana V.; Calzada-Wack, Julia; Kraiger, Markus; Leuchtenberger, Stefanie; Seisenberger, Claudia; Marschall, Susan; Rathkolb, Birgit; Scifo, Enzo; Liu, Ting; Thanabalasingam, Anoja; Sanchez-Vazquez, Raul; Martinez, Paula; Blasco, Maria A.; Savage, Sharon A.; Fuchs, Helmut; Ehninger, Dan; Gailus-Durner, Valerie
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errSave
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-11-30
err0
errOAAI
errKvarnung, Malin; Pettersson, Maria; Chun-on, Pattra; Rafati, Maryam; Mcreynolds, Lisa J.; Norberg, Anna; Moura, Pedro Luis; Pesonen, Ida; Chaireti, Roza; Soderholm, Boa Gronros; Burlin, Julia; Ryden, Jenny; Lindberg, Eva Hellstroem; Giri, Neelam; Savage, Sharon A.; Agarwal, Suneet; Nordgren, Ann; Tesi, Bianca
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errSave
Defining the complex needs of families with rare diseases-the example of telomere biology disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-10-01
err3
errOAAI
errWilsnack, Catherine; Rising, Camella J.; Pearce, Emily E.; Shepherd, Rowan Forbes; Thompson, Ashley S.; Majid, Alina; Werner-Lin, Allison; Savage, Sharon A.; Hutson, Sadie P.
errShare
errSave
Risk of therapy-related subsequent cancers in individuals with germline TP53 variants
errCANCER RESEARCH
IF16.6
err2024-09-05
err0
PREAI
errVillani, Anita; Khincha, Payal; Hatton, Jessica; Schonfeld, Sara; Goudie, Catherine; Oba, Leatrisse; Pithadia, Kishan; Sanger, Birte; Kratz, Christian; Le, Anh N.; Orr, Caitlin; Maxwell, Kara N.; Naumer, Anne; Vagher, Jennie; Kohlmann, Wendy; Schi, Joshua; dos Santos, Elizabeth Santana; Michaeli, Orli; Carson, Jacob J.; Tsang, Derek S.; Kim, Raymond; Maciaszek, Jamie L.; Nichols, Kim E.; Goodman, Victoria E.; MacFarland, Suzanne P.; Reichman, Lara; Achatz, Maria Isabel; Savage, Sharon; Malkin, David; Morton, Lindsay M.
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errSave
Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group
errCLINICAL CANCER RESEARCH
IF10.2
err2024-08-27
err1
errOAAI
errMacFarland, Suzanne P.; Becktell, Kerri; Schneider, Kami Wolfe; Kuiper, Roland P.; Lesmana, Harry; Meade, Julia; Nichols, Kim E.; Porter, Christopher C.; Savage, Sharon A.; Schultz, Kris Ann; Scott, Hamish; States, Lisa; Tabori, Uri; Tamura, Chieko; Tomlinson, Gail; Zelley, Kristin; Durno, Carol; Bauer, Andrew; Plon, Sharon E.
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errSave
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes
errTRANSPLANTATION AND CELLULAR THERAPY
IF4.4
err2024-08-01
err0
PREAI
errRafati, Maryam; McReynolds, Lisa J.; Wang, Youjin; Hicks, Belynda; Jones, Kristine; Spellman, Stephen R.; He, Meilun; Bolon, Yung-Tsi; Arrieta-Bolanos, Esteban; Saultz, Jennifer N.; Lee, Stephanie J.; Savage, Sharon A.; Gadalla, Shahinaz M.
errShare
errSave
Reply: Accurate predictor for liver disease progression in patients with DC/TBD
errHEPATOLOGY
IF15.8
err2024-07-17
err0
PREAI
errGiri, Neelam; Niewisch, Marena R.; Rosenberg, Philip S.; Vittal, Anusha; Savage, Sharon A.; Heller, Theo
errShare
errSave
Liver disease and transplantation in telomere biology disorders: An international multicenter cohort
errHEPATOLOGY COMMUNICATIONS
IF4.6
err2024-07-01
err0
errOAAI
errWang, YunZu Michele; Kaj-Carbaidwala, Batul; Lane, Adam; Agarwal, Suneet; Beier, Fabian; Bertuch, Alison; Borovsky, Kristin A.; Brennan, Steven K.; Calado, Rodrigo T.; Catto, Luiz Fernando B.; Dufour, Carlo; Ebens, Christen L.; Fioredda, Francesca; Giri, Neelam; Gloude, Nicholas; Goldman, Frederick; Hertel, Paula M.; Himes, Ryan; Keel, Sioban B.; Koura, Divya T.; Kratz, Christian P.; Kulkarni, Sakil; Liou, Iris; Nakano, Taizo A.; Nastasio, Silvia; Niewisch, Marena R.; Penrice, Daniel D.; Sasa, Ghadir S.; Savage, Sharon A.; Simonetto, Douglas A.; Ziegler, David S.; Miethke, Alexander G.; Myers, Kasiani C.
errShare
errSave
When the somatic genome informs the germline: the example of TP53
errJNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
err2024-06-22
err0
errOAAI
errKhincha, Payal P.; Savage, Sharon A.
errShare
errSave
Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease
errNATURE COMMUNICATIONS
IF15.7
err2024-06-18
err2
errOAAI
errSanchez, Santiago E.; Gu, Yuchao; Wang, Yan; Golla, Anudeep; Martin, Annika; Shomali, William; Hockemeyer, Dirk; Savage, Sharon A.; Artandi, Steven E.
errShare
errSave
High resolution telomere measurements in human cancer and aging using long-read nanopore sequencing
errCANCER RESEARCH
IF16.6
err2024-04-05
err0
PREAI
errSanchez, Santiago; Gu, Jessica; Golla, Anudeep; Shomali, William; Martin, Annika; Hockemeyer, Dirk; Savage, Sharon; Artandi, Steven
errShare
errSave
A polymorphic TERT tandem repeat creating an expandable intronic G4 quadruplex is associated with TERT expression, relative leukocyte telomere length and cancer risk
errCANCER RESEARCH
IF16.6
err2024-03-22
err0
PREAI
errFlorez-Vargas, Oscar; Ho, Michelle; Hogshead, Max; Lee, Chia-Han; Forsythe, Kaitlin; Papenberg, Brenen; Jones, Kristine; Luo, Wen; Teshome, Kedest; Blauwendraat, Cornelis; Kolmogorov, Mikhail; Chanock, Stephen J.; Machiela, Mitchell J.; Schneekloth, John; Gadalla, Shahinaz; Savage, Sharon A.; Mbulaiteye, Sam M.; Prokunina-Olsson, Ludmila
errShare
errSave
Underlying germline genetic architecture of pediatric sarcomas: Evaluating the role of common and rare variants in 4,160 patients
errCANCER RESEARCH
IF16.6
err2024-03-22
err0
PREAI
errMirabello, Lisa; Egolf, Laura E.; Zhu, Bin; Gianferante, D. Matthew; Wang, Kevin; Li, Shengchao Alfred; Machiela, Mitchell J.; Spector, Logan G.; Schiffman, Joshua D.; Sabo, Aniko; Renwick, Alexander; Martin-Giacalone, Bailey; Scheurer, Michael E.; Plon, Sharon; Hawkins, Douglas; Venkatramani, Rajkumar; Stewart, Douglas; Morton, Lindsay M.; Hudson, Melissa M.; Armstrong, Gregory T.; Bhatia, Smita; Dean, Michael; Janeway, Katherine A.; Patino-Garcia, Ana; Lecanda, Fernando; Serra, Massimo; Hattinger, Claudia; Scotlandi, Katia; Flanagan, Adrienne M.; Amary, Fernanda; Andrulis, Irene L.; Wunder, Jay S.; Ballinger, Mandy L.; Thomas, David M.; Delattre, Olivier; Hubbard, Aubrey K.; Liu, Jia; Luo, Wen; Hicks, Belynda D.; Yeager, Meredith; Rafati, Maryam; Huang, Wen-Yi; Landi, Maria T.; Lori, Adriana; Diver, Ryan; Savage, Sharon A.; Chanock, Stephen J.; Lupo, Philip J.
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errSave
Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome
errCLINICAL GASTROENTEROLOGY AND HEPATOLOGY
IF12
err2024-03-01
err2
PREAI
errHatton, Jessica n.; de Andrade, Kelvin c.; Frone, Megan n.; Savage, Sharon a.; Khincha, Payal p.
errShare
errSave
The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis
errJMIR INFODEMIOLOGY
IF2.3
err2024-01-15
err2
errOAAI
errPearce, Emily; Raj, Hannah; Emezienna, Ngozika; Gilkey, Melissa B.; Lazard, Allison J.; Ribisl, Kurt M.; Savage, Sharon A.; Han, Paul K. J.
errShare
errSave

Research Directions

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Co-authors
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