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S

Sharon A. Savage

national cancer institute national institutes of health
H指数:76
被引数:2.3万

个人简介

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荣誉奖项

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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

Human Genetics and Genomics Advances
IF3.6
2025-10-250
OAAI
Logan 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
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

Genome Medicine
IF11.2
2025-10-240
OAAI
Cristina 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
Germline Pathogenic Variants in MUTYH Are Associated With Inferior Survival After Hematopoietic Cell Transplantation in Patients With Hematologic Malignancies or Disorders

MUTYH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

American Journal of Hematology
IF9.9
2025-10-030
OAAI
Maryam 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
Peripheral blood DNA methylation predicts the early onset of primary tumor in TP53 mutation carriers

外周血DNA甲基化预测TP53突变携带者中主肿瘤的早期发生

Nature Communications
IF15.7
2025-08-260
OAAI
Vallijah Subasri; Benjamin Brew; Brianne Laverty; Lauren Erdman; Tanya Guha; Jordan R. Hansford; Elizabeth Cairney; Carol Portwine; Christine Elser; Jonathan L. Finlay; Kim E. Nichols; Jo Anson; Wendy Kohlmann; Haifan Gong; Jodi Lees; Noa Alon; Ledia Brunga; Anita Villani; Kelvin C. de Andrade; Payal P. Khincha; Sharon A. Savage; Joshua D. Schiffman; Trevor J. Pugh; David Malkin; Anna Goldenberg
Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita

Ten1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

SCIENCE ADVANCES
IF12.5
2025-04-110
OA
Sanz-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
Risk of therapy-related subsequent cancers in individuals with germline TP53 variants
CANCER RESEARCH
IF16.6
2024-09-050
PRE
Villani, 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.
Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group
CLINICAL CANCER RESEARCH
IF10.2
2024-08-271
OA
MacFarland, 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.
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

TRANSPLANTATION AND CELLULAR THERAPY
IF4.4
2024-08-010
PRE
Rafati, 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.
Liver disease and transplantation in telomere biology disorders: An international multicenter cohort
HEPATOLOGY COMMUNICATIONS
IF4.6
2024-07-010
OAAI
Wang, 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.
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

CANCER RESEARCH
IF16.6
2024-03-220
PRE
Florez-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
Underlying germline genetic architecture of pediatric sarcomas: Evaluating the role of common and rare variants in 4,160 patients
CANCER RESEARCH
IF16.6
2024-03-220
PRE
Mirabello, 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.

研究方向

暂未获取到该数据
N
Neelam Giri
H 指数:43论文数:196被引数:8,213
B
Blanche P. Alter
H 指数:74论文数:401被引数:1.9万
M
Meredith Yeager
H 指数:91论文数:585被引数:3.3万
S
Stephen J. Chanock
H 指数:170论文数:2,236被引数:12.6万
P
Payal P. Khincha
H 指数:22论文数:136被引数:2,043
L
L. Phuong
H 指数:39论文数:112被引数:6,030
L
Lisa Mirabello
H 指数:32论文数:122被引数:5,627
S
Shahinaz M. Gadalla
H 指数:39论文数:232被引数:5,682
M
Margaret A. Tucker
H 指数:92论文数:451被引数:3.2万
A
Ana Patiño‐García
H 指数:46论文数:322被引数:7,096