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

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia

利用基因组诊断进行儿童急性白血病的预后和治疗

Newman, Haley; Wong, Derek; Wu, Jinhua; Schubert, Jeffrey; Golenberg, Netta; Naveh, Natali; Patel, Maha; Xu, Feng; Charles, Sarah; Chen, Jiani; Denenberg, Elizabeth H; Fanning, Elizabeth A; Gallo, Daniel; Luke, Tammy; Thomas, Morgan; Cao, Kajia; Chan, Ada J S; Holloman, Munashe; Fan, Zhiqian; Fu, Weixuan; Hunger, Stephen P; MacFarland, Suzanne P; Bernt, Kathrin M; Surrey, Lea F; Luo, Minjie; Wertheim, Gerald B; Li, Marilyn M; Tasian, Sarah K; Zhong, Yiming

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

Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group

PTEN错构瘤肿瘤综合征的癌症和过度生长表现:国际PHTS共识指南工作组的管理建议

Dhawan, Andrew; Baitamouni, Sarah; Liu, Darren; Yehia, Lamis; Anthony, Kristin; McCarther, Alicia; Tischkowitz, Marc; MacFarland, Suzanne P; Ngeow, Joanne; Hoogerbrugge, Nicoline; Eng, Charis

Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex

关于 PTEN 错构瘤肿瘤综合征、DICER1 相关肿瘤易感性和结节性硬化症的儿科监测建议更新

Schultz, Kris Ann P; MacFarland, Suzanne P; Perrino, Melissa R; Mitchell, Sarah G; Kamihara, Junne; Nelson, Alexander T; Mallinger, Paige H R; Brzezinski, Jack J; Maxwell, Kara N; Woodward, Emma R; Gallinger, Bailey; Kim, Sun Young; Greer, Mary-Louise C; Schneider, Kami Wolfe; Scollon, Sarah R; Das, Anirban; Wasserman, Jonathan D; Eng, Charis; Malkin, David; Foulkes, William D; Michaeli, Orli; Bauer, Andrew J; Stewart, Douglas R

Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes

关于骨病变综合征、遗传性平滑肌瘤病和肾细胞癌综合征以及其他罕见综合征患儿癌症筛查的最新进展

Michaeli, Orli; Kim, Sun Young; Mitchell, Sarah G; Jongmans, Marjolijn C J; Wasserman, Jonathan D; Perrino, Melissa R; Das, Anirban; MacFarland, Suzanne P; Scollon, Sarah R; Greer, Mary-Louise C; Sobreira, Nara; Gallinger, Bailey; Lupo, Philip J; Malkin, David; Schneider, Kami Wolfe; Schultz, Kris Ann P; Foulkes, William D; Woodward, Emma R; Stewart, Douglas R

Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis

儿童NF2、SMARCB1和LZTR1相关神经鞘瘤病癌症和中枢神经系统肿瘤监测的最新进展

Perrino, Melissa R; Jongmans, Marjolijn C J; Tomlinson, Gail E; Greer, Mary-Louise C; Scollon, Sarah R; Mitchell, Sarah G; Hansford, Jordan R; Schultz, Kris Ann P; Kohlmann, Wendy K; Kalish, Jennifer M; MacFarland, Suzanne P; Das, Anirban; Maxwell, Kara N; Pfister, Stefan M; Weksberg, Rosanna; Michaeli, Orli; Tabori, Uri; Ney, Gina M; Lupo, Philip J; Brzezinski, Jack J; Stewart, Douglas R; Woodward, Emma R; Kratz, Christian P

Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunction

对贝克威思-威德曼综合征肝脏进行单核多组学分析发现PPARA信号通路富集和代谢功能障碍

Snehal Nirgude # ,Elisia D Tichy # ,Zhengfeng Liu ,Sanam L Kavari ,Rose D Pradieu ,Mariah Byrne ,Feikun Yang ,Luis Gil-de-Gómez ,Brandon Mamou ,Kathrin M Bernt ,Wenli Yang ,Suzanne MacFarland ,Michael Xie ,Jennifer M Kalish

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies

将深度表型定量与下一代表型分析相结合,用于研究192名患有生殖系组织细胞病的个体

Lubin, Emily E; Gonzalez, Elizabeth M; Sangree, Annabel K; Durham, Emily L; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M; Layo-Carris, Dana E; Clark, Kelly J; Melendez-Perez, Ashley J; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E; Barakat, Tahsin Stefan; Mercier, Sandra; Cogné, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; de Los Ángeles Gómez Cano, María; Palomares-Bralo, María; Arévalo, Tania Barragán; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P; Ahrens-Nicklas, Rebecca C; Nomakuchi, Tomoki T; Bhoj, Elizabeth J K

Gemcitabine and Oxaliplatin-Induced Veno-Occlusive Disease in a Pediatric Patient With Multiply Relapsed Germ Cell Tumor

吉西他滨和奥沙利铂诱发儿童复发性生殖细胞肿瘤患者发生静脉闭塞性疾病

Ortiz, Jose; Seif, Alix E; States, Lisa; Mehta, Sanjiv; MacFarland, Suzanne P; Zheng, Daniel J

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies

关于患有 1 型神经纤维瘤病、努南综合征、CBL 综合征、科斯特洛综合征及相关 RAS 病患者的儿科癌症监测建议更新

Perrino, Melissa R; Das, Anirban; Scollon, Sarah R; Mitchell, Sarah G; Greer, Mary-Louise C; Yohe, Marielle E; Hansford, Jordan R; Kalish, Jennifer M; Schultz, Kris Ann P; MacFarland, Suzanne P; Kohlmann, Wendy K; Lupo, Philip J; Maxwell, Kara N; Pfister, Stefan M; Weksberg, Rosanna; Michaeli, Orli; Jongmans, Marjolijn C J; Tomlinson, Gail E; Brzezinski, Jack; Tabori, Uri; Ney, Gina M; Gripp, Karen W; Gross, Andrea M; Widemann, Brigitte C; Stewart, Douglas R; Woodward, Emma R; Kratz, Christian P