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M

Maria Isabel Achatz

communaute universite grenoble alpes
H指数:36
被引数:6,177

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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
Breast cancer germline multigene panel testing in mainstream oncology based on clinical–public health utility: ESMO Precision Oncology Working Group recommendations

基于临床-公共卫生效用的主流肿瘤学中乳腺癌胚系多基因-panel检测：ESMO精准肿瘤学工作组建议

Annals of Oncology
IF65.4
2025-06-150
PREAI
C. Turnbull; M.I. Achatz; J. Balmaña; E. Castro; G. Curigliano; C. Cybulski; S.M. Domchek; D.G. Evans; H. Hanson; N. Hoogerbrugge; P.A. James; A. Krause; K.L. Nathanson; J. Ngeow Yuen Yie; M. Robson; M. Tischkowitz; B. Westphalen; W.D. Foulkes
HER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndrome (vol 211, 114307, 2024)

HER2状态和乳腺癌患者及Li-Fraumeni综合征患者对新辅助抗HER2治疗的反应（卷211，114307，2024）

EUROPEAN JOURNAL OF CANCER
IF7.1
2025-05-010
PRE
Bottosso, Michele; Sandoval, Renata L.; Verret, Benjamin; Polidorio, Natalia; Caron, Olivier; Gennari, Alessandra; Bychkovsky, Brittany L.; Cahill, Sophie H.; Achatz, Maria I.; Guarneri, Valentina; Andre, Fabrice; Garber, Judy E.
Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers
LANCET REGIONAL HEALTH-AMERICAS
IF7.6
2025-02-010
OAAI
Galante, Pedro A. F.; Guardia, Gabriela D. A.; Pisani, Janina; Sandoval, Renata L.; Barros-Filho, Mateus C.; Gifoni, Ana Carolina Leite Vieira Costa; Patrao, Diogo F. C.; Ashton-Prolla, Patricia; de Vasconcellos, Vitor Fiorin; Freycon, Claire; Levine, Arnold; Hainaut, Pierre; Achatz, Maria Isabel
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.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
CLINICAL CANCER RESEARCH
IF10.2
2023-07-1311
OAAI
Stolarova, Lenka; Kleiblova, Petra; Zemankova, Petra; Stastna, Barbora; Janatova, Marketa; Soukupova, Jana; Achatz, Maria Isabel; Ambrosone, Christine; Apostolou, Paraskevi; Arun, Banu K.; Auer, Paul; Barnard, Mollie; Bertelsen, Birgitte; Japan, Biobank; Blok, Marinus J.; Boddicker, Nicholas; Brunet, Joan; Burnside, Elizabeth S.; Calvello, Mariarosaria; Campbell, Ian; Chan, Sock Hoai; Chen, Fei; Chiang, Jian Bang; Coppa, Anna; Cortesi, Laura; Crujeiras-Gonzalez, Ana; Czecanca, Consortium; De Leeneer, Kim; De Putter, Robin; DePersia, Allison; Devereux, Lisa; Domchek, Susan; Efremidis, Anna; Engel, Christoph; Ernst, Corinna; Evans, D. Gareth R.; Feliubadalo, Lidia; Fostira, Florentia; Fuentes-Rios, Olivia; Gomez-Garcia, Encarna B.; Gonzalez, Sara; Haiman, Christopher; Hansen, Thomas van Overeem; Hauke, Jan; Hodge, James; Hu, Chunling; Huang, Hongyan; Ishak, Nur Diana Binte; Iwasaki, Yusuke; Konstantopoulou, Irene; Kraft, Peter; Lacey, James; Lazaro, Conxi; Li, Na; Lim, Weng Khong; Lindstrom, Sara; Lori, Adriana; Martinez, Elana; Martins, Alexandra; Matsuda, Koichi; Matullo, Giuseppe; McInerny, Simone; Michailidou, Kyriaki; Montagna, Marco; Monteiro, Alvaro N. A.; Mori, Luigi; Nathanson, Katherine; Neuhausen, Susan L.; Nevanlinna, Heli; Olson, Janet E.; Palmer, Julie; Pasini, Barbara; Patel, Alpa; Piane, Maria; Poppe, Bruce; Radice, Paolo; Renieri, Alessandra; Resta, Nicoletta; Richardson, Marcy E.; Rosseel, Toon; Ruddy, Kathryn J.; Santamarina, Marta; Santos, Elizabeth Santana Dos; Teras, Lauren; Toland, Amanda E.; Trentham-Dietz, Amy; Vachon, Celine M.; Volk, Alexander E.; Weber-Lassalle, Nana; Weitzel, Jeffrey N.; Wiesmuller, Lisa; Winham, Stacey; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yao, Song; Zampiga, Valentina; Zethoven, Magnus; Zhang, Ze Wen; Zima, Tomas; Spurdle, Amanda B.; Ana, Vega; Rossing, Maria; Del Valle, Jesus; De Nicolo, Arcangela; Hahnen, Eric; Claes, Kathleen B. M.; Ngeow, Joanne; Momozawa, Yukihide; James, Paul A.; Couch, Fergus J.; Macurek, Libor; Kleibl, Zdenek
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study
JCO GLOBAL ONCOLOGY
IF3
2022-07-0113
OAAI
Ossa Gomez, Carlos Andres; Achatz, Maria Isabel; Hurtado, Mabel; Sanabria-Salas, Maria Carolina; Sullcahuaman, Yasser; Chavarri-Guerra, Yanin; Dutil, Julie; Nielsen, Sarah M.; Esplin, Edward D.; Michalski, Scott T.; Bristow, Sara L.; Hatchell, Kathryn E.; Nussbaum, Robert L.; Pineda-Alvarez, Daniel E.; Ashton-Prolla, Patricia
Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome
JCO GLOBAL ONCOLOGY
IF3
2021-12-019
OAAI
Sandoval, Renata Lazari; Masotti, Cibele; de Macedo, Mariana Petaccia; Silva Almeida Ribeiro, Mauricio Fernando; Rathsam Leite, Ana Carolina; Meireles, Sibele Inacio; Bovolin, Rodrigo Medeiros; Santini, Fernando Costa; Munhoz, Rodrigo Ramella; Fontes Jardim, Denis Leonardo; Katz, Artur; Camargo, Anamaria Aranha; Fernandes, Gustavo dos Santos; Achatz, Maria Isabel

研究方向

暂未获取到该数据
P
Pierre Hainaut
H 指数:103论文数:745被引数:4.5万
P
Patrícia Ashton‐Prolla
H 指数:39论文数:446被引数:5,026
D
Dirce Maria Carraro
H 指数:46论文数:425被引数:7,910
S
Sharon A. Savage
H 指数:76论文数:575被引数:2.3万
A
Ana Cristina Victorino Krepischi
H 指数:35论文数:281被引数:4,677
R
Renata Lazari Sandoval
H 指数:13论文数:49被引数:440
S
Sílvia Regina Rogatto
H 指数:40论文数:427被引数:4,856
A
Amanda França de Nóbrega
H 指数:9论文数:24被引数:287
C
Carla Rosenberg
H 指数:47论文数:294被引数:1.1万
K
Kelvin C. de Andrade
H 指数:13论文数:86被引数:877