日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Frequency and Clinical Significance of Clonal and Subclonal Driver Mutations in High-Risk Neuroblastoma at Diagnosis: A Children's Oncology Group Study

儿童肿瘤协作组研究:高危神经母细胞瘤诊断时克隆和亚克隆驱动基因突变的频率和临床意义

Berko, Esther R; Naranjo, Arlene; Daniels, Alexander A; McNulty, Samantha N; Krytska, Kateryna; Druley, Todd; Zelley, Kirstin; Koneru, Balakrishna; Chen, Lulu; Polkosnik, Grace; Irwin, Meredith S; Bagatell, Rochelle; Maris, John M; Reynolds, C Patrick; DuBois, Steven G; Park, Julie R; Mossé, Yael P

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

基于贝叶斯方法的定量基因特异性变异分类:更新的专家组建议改进了李-弗劳梅尼综合征TP53种系变异的分类。

Fortuno, Cristina; Frone, Megan N; Mester, Jessica; de la Hoya, Miguel; Mai, Phuong L; Pesaran, Tina; Achatz, Maria Isabel; Bassett, Rebecca; Bustamante, Carolina; Crowley, Stephanie; de Andrade, Kelvin Cesar; Evans, D Gareth; Feng, Bingjian; Fuqua, Laura; Harrell, Maria Isabel; Hatton, Jessica N; Huether, Robert; Kesserwan, Chimene; Lee, Kristy; MacFarland, Suzanne P; Maciaszek, Jamie L; Maxwell, Kara; McGoldrick, Kelly; Murphy, Maureen; Nehoray, Bita; Penkert, Judith; Pinto, Emilia Modolo; Plon, Sharon E; Schwartz-Levine, Alison; Thompson, Ashley S; Wang, Wenyi; Zambetti, Gerard P; Zelley, Kristin; James, Paul A; Savage, Sharon A; Kratz, Christian P; Spurdle, Amanda B

Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes

贝克威思-威德曼综合征及其他易感综合征中肾母细胞瘤和肝母细胞瘤监测的最新进展

Kalish, Jennifer M; Becktell, Kerri D; Bougeard, Gaëlle; Brodeur, Garrett M; Diller, Lisa R; Doria, Andrea S; Hansford, Jordan R; Klein, Steven D; Kohlmann, Wendy K; Kratz, Christian P; MacFarland, Suzanne P; Pajtler, Kristian W; Rednam, Surya P; Schienda, Jaclyn; States, Lisa J; Villani, Anita; Weksberg, Rosanna; Zelley, Kristin; Tomlinson, Gail E; Brzezinski, Jack J

Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group

儿童遗传性胃肠道癌症风险综合征的癌症筛查:美国癌症研究协会儿童癌症易感性工作组的最新进展

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

Expanding Genetic Counselor Roles: A Model for Global Research Development

拓展遗传咨询师的角色:全球研究发展模式

Muraresku, Colleen C; McCormick, Elizabeth M; Rockart, Lydia; Blaine Crowley, T; Asher, Stephanie; Back, Amanda; Baldino, Sarah M; Bedoukian, Emma; Britt, Allison D; Burrill, Natalie; Cacioppo, Cara; Clark, Dana Farengo; Clark, Mary Egan; Conway, Laura; Dratch, Laynie; Dubbs, Holly A; Engelhardt, Nicole M; Ginn, Natalie; Gray, Christopher; Hartman, Tiff; Hathaway, Evan R; Helbig, Katherine L; Hoffman-Andrews, Lily; Kasperski, Stefanie; Keena, Beth A; Keller, Kierstin N; Long, Jessica M; Lulis, Lauren; Lusk, Laina; McGinn, Daniel E; Mueller, Rebecca; Paul, Rache A; Pilchman, Lisa; Powers, Jacquelyn; Raible, Sarah E; Reichert, Sara; Rippert, Alyssa L; Arnold, Angela G; Ruggiero, Sarah M; Schindewolf, Erica; Sullivan, Katie Rose; Terek, Shannon; Wang, Bekah; Wells, McKenzie; Wisniewski, Natalia; Wright, Renee; Wood, Elisabeth McCarty; Woyciechowski, Stacy; Zelley, Kristin; Valverde, Kathleen D; McDonald-McGinn, Donna M

Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome

仔细观察过度生长:PTEN错构瘤肿瘤综合征中的体质嵌合现象

Newman, Haley; Long, Jessica M; Zelley, Kristin; Baldino, Sarah; Li, Marilyn M; Maxwell, Kara N; MacFarland, Suzanne P

A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome

在一名患有李-弗劳梅尼综合征的儿童中发现一种新的TP53串联重复。

Xu, Feng; Aref-Eshghi, Erfan; Wu, Jinhua; Schubert, Jeffrey; Wertheim, Gerald; Bhatti, Tricia; Pogoriler, Jennifer; Patel, Maha; Cao, Kajia; Long, Ariel; Fan, Zhiqian; Denenberg, Elizabeth H; Fanning, Elizabeth A; Wilmoth, Donna M; Luo, Minjie; Conlin, Laura K; Dain, Aleksandra S; Zelley, Kristin; Baldino, Sarah; Balamuth, Naomi; MacFarland, Suzanne; Li, Marilyn M; Zhong, Yiming

Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant

携带或不携带致病性SMAD4/BMPR1A变异的幼年性息肉综合征的表型差异

MacFarland, Suzanne P; Ebrahimzadeh, Jessica E; Zelley, Kristin; Begum, Lubna; Bass, Lee M; Brand, Randall E; Dudley, Beth; Fishman, Douglas S; Ganzak, Amanda; Karloski, Eve; Latham, Alicia; Llor, Xavier; Plon, Sharon; Riordan, Mary K; Scollon, Sarah R; Stadler, Zsofia K; Syngal, Sapna; Ukaegbu, Chinedu; Weiss, Jennifer M; Yurgelun, Matthew B; Brodeur, Garrett M; Mamula, Petar; Katona, Bryson W

A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

阿什肯纳兹犹太人中普遍存在的罕见 TP53 突变可导致多种癌症风险

Jacquelyn Powers #, Emilia M Pinto #, Thibaut Barnoud, Jessica C Leung, Tetyana Martynyuk, Andrew V Kossenkov, Aaron H Philips, Heena Desai, Ryan Hausler, Gregory Kelly, Anh N Le, Marilyn M Li, Suzanne P MacFarland, Louise C Pyle, Kristin Zelley, Katherine L Nathanson, Susan M Domchek, Thomas P Slav

Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome

李-弗劳梅尼综合征患者的上消化道癌症风险和监测结果

Katona, Bryson W; Powers, Jacquelyn; McKenna, Danielle B; Long, Jessica M; Le, Anh N; Hausler, Ryan; Zelley, Kristin; Jennings, Sarah; Domchek, Susan M; Nathanson, Katherine L; MacFarland, Suzanne P; Maxwell, Kara N