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

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

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

Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms

治疗相关性髓系肿瘤患者的遗传性癌症易感突变

Shih, Andrew J; Jun, Tomi; Skol, Andrew D; Bao, Riyue; Huang, Lei; Vora, Sapana; McNerney, Megan E; Hungate, Eric A; Le Beau, Michelle M; Larson, Richard A; Elliott, Aaron; Lu, Hsiao-Mei; Huether, Robert; Hernandez, Felicia; Stölzel, Friedrich; Allan, James M; Onel, Kenan

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

ACMG/AMP 变异解读指南中关于生殖系 TP53 变异的规范

Fortuno, Cristina; Lee, Kristy; Olivier, Magali; Pesaran, Tina; Mai, Phuong L; de Andrade, Kelvin C; Attardi, Laura D; Crowley, Stephanie; Evans, D Gareth; Feng, Bing-Jian; Foreman, Ann K M; Frone, Megan N; Huether, Robert; James, Paul A; McGoldrick, Kelly; Mester, Jessica; Seifert, Bryce A; Slavin, Thomas P; Witkowski, Leora; Zhang, Liying; Plon, Sharon E; Spurdle, Amanda B; Savage, Sharon A

Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens

仅对肿瘤组织进行测序与通过配对肿瘤和正常组织样本进行种系减除法测定肿瘤突变负荷的比较

Parikh, Kaushal; Huether, Robert; White, Kevin; Hoskinson, Derick; Beaubier, Nike; Dong, Haidong; Adjei, Alex A; Mansfield, Aaron S

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

EEF1A2基因中有害的新生错义变异会导致发育性和退行性癫痫-运动障碍性脑病。

Carvill, Gemma L; Helbig, Katherine L; Myers, Candace T; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N; Guida, Brandon S; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G; Caruso, Paul A; Lin, Angela E; Jansen, Floor E; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C; Kruer, Michael C

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

大规模测序鉴定出的易感基因与乳腺癌和卵巢癌的关联

Lu, Hsiao-Mei; Li, Shuwei; Black, Mary Helen; Lee, Shela; Hoiness, Robert; Wu, Sitao; Mu, Wenbo; Huether, Robert; Chen, Jefferey; Sridhar, Srijani; Tian, Yuan; McFarland, Rachel; Dolinsky, Jill; Tippin Davis, Brigette; Mexal, Sharon; Dunlop, Charles; Elliott, Aaron

Clinical validation of the tempus xT next-generation targeted oncology sequencing assay

tempus xT 新一代靶向肿瘤测序检测的临床验证

Beaubier, Nike; Tell, Robert; Lau, Denise; Parsons, Jerod R; Bush, Stephen; Perera, Jason; Sorrells, Shelly; Baker, Timothy; Chang, Alan; Michuda, Jackson; Iguartua, Catherine; MacNeil, Shelley; Shah, Kaanan; Ellis, Philip; Yeatts, Kimberly; Mahon, Brett; Taxter, Timothy; Bontrager, Martin; Khan, Aly; Huether, Robert; Lefkofsky, Eric; White, Kevin P

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

更正:临床报告的候选基因标准:诊断性外显子组测序在8%的未确诊疾病患者中发现了改变的候选基因

Farwell Hagman, Kelly D; Shinde, Deepali N; Mroske, Cameron; Smith, Erica; Radtke, Kelly; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zöe; Chao, Elizabeth C; Alcaraz, Wendy A; Helbig, Katherine L; Sajan, Samin A; Rossi, Mari; Lu, Hsiao-Mei; Huether, Robert; Li, Shuwei; Wu, Sitao; Nuñes, Mark E; Tang, Sha

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

PTEN变异体鉴定的基因特异性标准:ClinGen PTEN专家组的建议

Mester, Jessica L; Ghosh, Rajarshi; Pesaran, Tina; Huether, Robert; Karam, Rachid; Hruska, Kathleen S; Costa, Helio A; Lachlan, Katherine; Ngeow, Joanne; Barnholtz-Sloan, Jill; Sesock, Kaitlin; Hernandez, Felicia; Zhang, Liying; Milko, Laura; Plon, Sharon E; Hegde, Madhuri; Eng, Charis