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

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial

来自美国国家癌症研究所-儿童肿瘤协作组儿科MATCH试验的生殖系癌症易感性结果

Scollon, Sarah; Plon, Sharon E; Joffe, Steven; Biegel, Jaclyn A; Kulkarni, Shashikant; Miles, George; Patton, David R; Coffey, Brent; Winter, Cynthia L; Tsongalis, Gregory J; Routbort, Mark J; Ramirez, Nilsa C; Saguilig, Lauren; Piao, Jin; Alonzo, Todd A; Berg, Stacey L; Fox, Elizabeth; Weigel, Brenda; Hawkins, Douglas S; Abrams, Jeffrey S; Mooney, Margaret; Takebe, Naoko; Tricoli, James V; Janeway, Katherine A; Seibel, Nita L; Parsons, D Williams

Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study

比较德克萨斯州KidsCanSeq儿童癌症研究中不同人群的生殖系外显子组测序与panel测序的诊断率

Desrosiers-Battu, Lauren R; Wang, Tao; Reuther, Jacquelyn; Miles, George; Dai, Hongzheng; Jo, Eunji; Russell, Heidi; Raesz-Martinez, Robin; Recinos, Alva; Gutierrez, Stephanie; Thomas, Amy; Berenson, Emily; Corredor, Jessica; Nugent, Kimberly; Wyatt Castillo, Rachel; Althaus, Rebecca; Littlejohn, Rebecca; Gessay, Shawn; Tomlinson, Gail; Gill, Jonathan; Bernini, Juan Carlos; Vallance, Kelly; Griffin, Timothy; Scollon, Sarah; Lin, Frank Y; Eng, Christine; Kulkarni, Shashikant; Hilsenbeck, Susan G; Roy, Angshumoy; McGuire, Amy L; Parsons, D Williams; Plon, Sharon E

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

对使用一线基因组测序诊断罕见遗传疾病的证据审查和注意事项

Wigby, Kristen M; Brockman, Deanna; Costain, Gregory; Hale, Caitlin; Taylor, Stacie L; Belmont, John; Bick, David; Dimmock, David; Fernbach, Susan; Greally, John; Jobanputra, Vaidehi; Kulkarni, Shashikant; Spiteri, Elizabeth; Taft, Ryan J

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

癌症体细胞变异致病性(致癌性)分类标准:临床基因组资源(ClinGen)、癌症基因组学联盟(CGC)和癌症变异解读联盟(VICC)的联合建议

Horak, Peter; Griffith, Malachi; Danos, Arpad M; Pitel, Beth A; Madhavan, Subha; Liu, Xuelu; Chow, Cynthia; Williams, Heather; Carmody, Leigh; Barrow-Laing, Lisa; Rieke, Damian; Kreutzfeldt, Simon; Stenzinger, Albrecht; Tamborero, David; Benary, Manuela; Rajagopal, Padma Sheila; Ida, Cristiane M; Lesmana, Harry; Satgunaseelan, Laveniya; Merker, Jason D; Tolstorukov, Michael Y; Campregher, Paulo Vidal; Warner, Jeremy L; Rao, Shruti; Natesan, Maya; Shen, Haolin; Venstrom, Jeffrey; Roy, Somak; Tao, Kayoko; Kanagal-Shamanna, Rashmi; Xu, Xinjie; Ritter, Deborah I; Pagel, Kym; Krysiak, Kilannin; Dubuc, Adrian; Akkari, Yassmine M; Li, Xuan Shirley; Lee, Jennifer; King, Ian; Raca, Gordana; Wagner, Alex H; Li, Marylin M; Plon, Sharon E; Kulkarni, Shashikant; Griffith, Obi L; Chakravarty, Debyani; Sonkin, Dmitriy

Best practices for the interpretation and reporting of clinical whole genome sequencing

临床全基因组测序结果解读和报告的最佳实践

Austin-Tse, Christina A; Jobanputra, Vaidehi; Perry, Denise L; Bick, David; Taft, Ryan J; Venner, Eric; Gibbs, Richard A; Young, Ted; Barnett, Sarah; Belmont, John W; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna A; Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David R; Rehman, Atteeq U; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton M; Rehm, Heidi L

A phase I trial evaluating the effects of plerixafor, G-CSF, and azacitidine for the treatment of myelodysplastic syndromes

一项评估普乐沙福、粒细胞集落刺激因子和阿扎胞苷治疗骨髓增生异常综合征疗效的I期临床试验

Huselton, Eric; Rettig, Michael P; Fletcher, Theresa; Ritchey, Julie; Gehrs, Leah; McFarland, Kyle; Christ, Stephanie; Eades, William C; Trinkaus, Kathryn; Romee, Rizwan; Kulkarni, Shashikant; Ghobadi, Armin; Abboud, Camille; Cashen, Amanda F; Stockerl-Goldstein, Keith; Uy, Geoffrey L; Vij, Ravi; Westervelt, Peter; DiPersio, John F; Schroeder, Mark A

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

医学基因组计划:将全基因组测序应用于罕见病诊断的临床应用

Marshall, Christian R; Bick, David; Belmont, John W; Taylor, Stacie L; Ashley, Euan; Dimmock, David; Jobanputra, Vaidehi; Kearney, Hutton M; Kulkarni, Shashikant; Rehm, Heidi

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

针对生殖系疾病诊断的临床全基因组测序分析验证的最佳实践

Marshall, Christian R; Chowdhury, Shimul; Taft, Ryan J; Lebo, Mathew S; Buchan, Jillian G; Harrison, Steven M; Rowsey, Ross; Klee, Eric W; Liu, Pengfei; Worthey, Elizabeth A; Jobanputra, Vaidehi; Dimmock, David; Kearney, Hutton M; Bick, David; Kulkarni, Shashikant; Taylor, Stacie L; Belmont, John W; Stavropoulos, Dimitri J; Lennon, Niall J

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

专家审核的必要性:临床基因组资源(ClinGen)中癌症数据审核概述

Ritter, Deborah I; Rao, Shruti; Kulkarni, Shashikant; Madhavan, Subha; Offit, Kenneth; Plon, Sharon E

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards

将 CIViC 中的众包临床癌症数据整理方法调整为 ClinGen 最低变异水平数据社区驱动标准

Danos, Arpad M; Ritter, Deborah I; Wagner, Alex H; Krysiak, Kilannin; Sonkin, Dmitriy; Micheel, Christine; McCoy, Matthew; Rao, Shruti; Raca, Gordana; Boca, Simina M; Roy, Angshumoy; Barnell, Erica K; McMichael, Joshua F; Kiwala, Susanna; Coffman, Adam C; Kujan, Lynzey; Kulkarni, Shashikant; Griffith, Malachi; Madhavan, Subha; Griffith, Obi L