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S

Sharon A. Savage

national cancer institute

76H指数
575论文数
2.3W被引数
收录论文 172
发表时间
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Telomere length of both parents contributes to heritable POT1 cancer-predisposition syndrome父母双方的端粒长度均参与了可遗传的POT1癌前倾向综合征
errNature Communications
IF15.7
err2026-09-14
err0
errOAAI
errAnnika Martin; Robert Lu; Alise Blake; Kim E. Nichols; Santiago E. Sanchez; Steven E. Artandi; Sharon A. Savage; Richa Sharma; Dirk Hockemeyer
err分享
err收藏
Detailed Assessment of Rare and Common TERT Variation in a Family with a Telomere Biology Disorder对一家有端粒生物学疾病家族中罕见和常见TERT变异的详细评估
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
err分享
err收藏
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome一种基于贝叶斯定量分析的基因特异性变异分类方法：更新的专家小组建议改进了TP53生殖细胞变异在Li-Fraumeni综合征中的分类
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
err分享
err收藏
Germline Pathogenic Variants in MUTYH Are Associated With Inferior Survival After Hematopoietic Cell Transplantation in Patients With Hematologic Malignancies or DisordersMUTYH中的生殖系致病性变异与血液恶性肿瘤或疾病患者造血细胞移植后较差的生存率相关
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
err分享
err收藏
Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders端粒生物学障碍中的无血管性坏死与轻微创伤性骨折
errClinical Genetics
IF2.3
err2025-08-05
err0
errOAAI
errArman M. Niknafs; Neelam Giri; Marena R. Niewisch; Sharon A. Savage
err分享
err收藏
hTERT Increases TRF2 to Induce Telomere Compaction and Extend Cell Replicative LifespanhTERT通过增加TRF2来诱导端粒压缩并延长细胞复制寿命
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
err分享
err收藏
Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenitaTen1在小鼠中的缺失诱导端粒缩短，并模拟人类先天性角化不良
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
err分享
err收藏
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
err分享
err收藏
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.
err分享
err收藏
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.
err分享
err收藏
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.
err分享
err收藏
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes重型再生障碍性贫血的噬血细胞淋巴组织细胞增生症基因变异及其对造血细胞移植结局的影响
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.
err分享
err收藏
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
err分享
err收藏
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.
err分享
err收藏
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.
err分享
err收藏
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.
err分享
err收藏
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
err分享
err收藏
A polymorphic TERT tandem repeat creating an expandable intronic G4 quadruplex is associated with TERT expression, relative leukocyte telomere length and cancer risk产生可扩展内含子G4四链体的多态性TERT串联重复序列与TERT表达，相对白细胞端粒长度和癌症风险相关
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
err分享
err收藏
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.
err分享
err收藏
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.
err分享
err收藏

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暂无研究方向
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