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

ClinGen API platform for classification of human genetic variants

ClinGen API平台用于人类遗传变异分类

Shah, Neethu; Farris, Tierra; Zuniga, Arturo Alejandro; Jackson, Andrew R; Arce, Jessie; Riehle, Kevin; Preston, Christine G; Mandell, Mark E; Wulf, Bryan; Cheung, Gloria; Yu, Keyang; Ritter, Deborah I; Jevtic, Dubravka; Milinkov, Miroslav; Martinovic, Novak; Vucinic, Nevena; Mihajlovic, Aleksandar; Rubin, Alan F; Cline, Melissa S; Distefano, Marina; Griffith, Malachi; Griffith, Obi L; Wright, Matt W; Klein, Teri E; Plon, Sharon E; Milosavljevic, Aleksandar

Mondo: integrating disease terminology across communities

Mondo:整合跨社区的疾病术语

Vasilevsky, Nicole A; Toro, Sabrina; Matentzoglu, Nicolas; Flack, Joseph E; Mullen, Kathleen R; Hegde, Harshad; Gehrke, Sarah; Whetzel, Patricia L; Shwetar, Yousif; Harris, Nomi L; Ngu, Mee S; Alyea, Gioconda L; Kane, Megan S; Roncaglia, Paola; Sid, Eric; Thaxton, Courtney L; Wood, Valerie; Abraham, Roshini S; Achatz, Maria Isabel; Ajuyah, Pamela; Amberger, Joanna S; Babb, Lawrence; Baker, Jasmine; Balhoff, James P; Berg, Jonathan S; Bhalla, Amol; Bofill-De Ros, Xavier; Braun, Ian R; Broeren, Eleanor C; Byer, Blake K; Byrne, Alicia B; Callahan, Tiffany J; Carmody, Leigh C; Chan, Lauren E; Clause, Amanda R; Cohen, Julie S; DeLuca, Marcello; Deuitch, Natalie T; Flowers, May; Fraser, Jamie; Fujiwara, Toyofumi; Gitau, Vanessa; Goldstein, Jennifer L; Gration, Dylan; Groza, Tudor; Gyori, Benjamin M; Hankey, William; Hilton, Jason A; Himmelstein, Daniel S; Hong, Stephanie S; Hoyt, Charles T; Huether, Robert; Hurwitz, Eric; Jacobsen, Julius O B; Kikuchi, Atsuo; Köhler, Sebastian; Korn, Daniel R; Lagorce, David; Laraway, Bryan J; Li, Jane Y; Malheiro, Adriana J; McLaughlin, James; Meldal, Birgit H M; Mohan, Shruthi; Moxon, Sierra A T; Munoz-Torres, Monica C; Nelson, Tristan H; Nicholas, Frank W; Ochoa, David; Olson, Daniel; Oprea, Tudor I; Oskotsky, Tomiko T; Osumi-Sutherland, David; Paris, Kelley; Parkinson, Helen E; Pendlington, Zoë M; Peng, Xiao P; Pizzino, Amy; Plon, Sharon E; Powell, Bradford C; Ratliff, Julie C; Rehm, Heidi L; Remennik, Lyubov; Riggs, Erin R; Roberts, Sean; Robinson, Peter N; Ross, Justyne E; Schaper, Kevin; Schilder, Brian M; Schmidt, Johanna L; Sharp, Elliott W; Similuk, Morgan N; Smedley, Damian; Sneddon, Tam P; Sparks, Rachel; Stefancsik, Ray; Stupp, Gregory S; Sundar, Shilpa; Takatsuki, Terue; Tammen, Imke; Tshering, Kezang C; Unni, Deepak R; Valasek, Eloise; Vanderver, Adeline; Wagner, Alex H; Webb, Ryan F; Welter, Danielle; Yaya-Stupp, Doron; Zankl, Andreas; Zhang, Xingmin Aaron; McMurry, Julie A; Chute, Christopher G; Hamosh, Ada; Mungall, Christopher J; Haendel, Melissa A

Stakeholder views on the installation and use of mile long tracks in community parks aimed at increasing physical activity in low-income minority areas: A qualitative evaluation in Birmingham UK

利益相关者对在社区公园内安装和使用长达一英里的跑道以增加低收入少数族裔地区居民身体活动的看法:英国伯明翰的一项定性评估

Retzer, Ameeta; Adab, Peymané; Fischer, Nina Sa; Frew, Emma; Jones, Janet; Makahleh, Hisham Y; Manna, Anwesa; Pallan, Miranda; Pokhilenko, Irina; Rudge, Gavin; Duff, Rhona; Subdurally-Plon, Mohammud Ibrahim; Jolly, Kate

Co-occurrence of congenital anomalies and childhood brain tumors in 22 million live births

2200万活产婴儿中先天性异常与儿童脑肿瘤同时发生

Hoang, Thanh T; Schraw, Jeremy M; Shumate, Charles; Desrosiers, Tania A; Nembhard, Wendy N; Yazdy, Mahsa; Nestoridi, Eirini; Janitz, Amanda E; Kirby, Russell S; Salemi, Jason L; Tanner, Jean Paul; Chambers, Tiffany M; Taylor, Michael D; Huff, Chad D; Plon, Sharon E; Lupo, Philip J; Scheurer, Michael E

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

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition

生殖系致病性DROSHA变异与松果体母细胞瘤和肾母细胞瘤易感性相关

Fiorica, Peter N; Golmard, Lisa; Kim, Jung; Bao, Riyue; Lin, Frank Y; Roy, Angshumoy; Pribnow, Allison; Perrino, Melissa R; Masliah-Planchon, Julien; Michalak-Provost, Sophie; Wong, Jennifer; Filser, Mathilde; Stoppa-Lyonnet, Dominique; Bourdeaut, Franck; Brahimi, Afane; Ingster, Olivier; Saulnier Sholler, Giselle; Jackson, Sarah A; Sasaki, Mark M; Fowler, Trent; Ng, Anita; Corbett, Ryan J; Kaufman, Rebecca S; Haley, Jeremy S; Carey, David J; Huang, Kuan-Lin; Diskin, Sharon J; Rokita, Jo Lynne; Al-Kateb, Hussam; McGee, Rose B; Schiffman, Joshua D; Chen, Kenneth S; Stewart, Douglas R; Williams Parsons, D; Plon, Sharon E; Schultz, Kris Ann P; Onel, Kenan

Pediatric Cancer Predisposition and Surveillance Update: Summary Perspective and Future Directions

儿童癌症易感性和监测最新进展:总结、展望和未来方向

Brodeur, Garrett M; Diller, Lisa R; Nichols, Kim E; Plon, Sharon E; Porter, Christopher C; Malkin, David

Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource

在临床基因组资源中设计并实施一项关于公正、公平、多元化和包容性的行动计划

Popejoy, Alice B; Ritter, Deborah I; Azzariti, Danielle; Berg, Jonathan S; Bulkley, Joanna E; Cho, Mildred; Gonzaga-Jauregui, Claudia; Klein, Teri E; Martschenko, Daphne O; Oni-Orisan, Akinyemi; Ramos, Erin M; Rehm, Heidi L; Riggs, Erin R; Wright, Matthew W; Yudell, Michael; Plon, Sharon E; Morales, Joannella

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

Risk of carcinomas among children and adolescents with birth defects

患有先天缺陷的儿童和青少年罹患癌的风险

Schraw, Jeremy M; Tark, Ji Yun; Desrosiers, Tania A; Chambers, Tiffany M; Shumate, Charles J; Nembhard, Wendy N; Yazdy, Mahsa M; Nestoridi, Eirini; Malone, Mary Frances Wedekind; Laetsch, Theodore W; Widemann, Brigitte C; Janitz, Amanda E; Tanner, Jean Paul; Kirby, Russell S; Salemi, Jason L; Spector, Logan G; Huff, Chad D; Plon, Sharon E; Lupo, Philip J