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

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden

UBA1 突变负荷广泛范围内 VEXAS 综合征的临床表现

Anderson, Meghan; Ercelen, Defne; Richardson, Ashley; Kim, Jung; Torene, Rebecca I; Sirenko, Maria; Haley, Jeremy S; Cook, Adam; Hill, Wesley; Dove, James; Retterer, Kyle; Carroll, Eitan; Carey, David J; Asgari, Samira; Stewart, Douglas R; Beck, David B

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment

利用基因组检测方法评估携带 RAS/MAPK 基因致病性种系变异的成年人的癌症风险

Kim, Jung; Ney, Gina; Frone, Megan N; Haley, Jeremy S; Ramos, Mark L; Mirshahi, Uyenlinh L; Astiazaran-Symonds, Esteban; Shandrina, Mariya; Urban, Gretchen; Rao, H Shanker; Stahl, Rick; Golden, Alicia; Yohe, Marielle E; Gross, Andrea M; Ding, Yi; Carey, David J; Gelb, Bruce D; Stewart, Douglas R

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

从连续体的角度考虑遗传性癌症风险:国际和多学科视角:美国医学遗传学和基因组学学会 (ACMG) 的考虑要点声明

Pal, Tuya; Christopher, Joseph; Astiazaran-Symonds, Esteban; Foulkes, William D; James, Paul; Klugman, Susan; Kurian, Allison; Mak, Julie; Monteiro, Alvaro; Robson, Mark; Tischkowitz, Marc; Stewart, Douglas R; Hanson, Helen

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

睾丸癌联盟(TECAC):填补睾丸生殖细胞肿瘤遗传病因学方面的知识空白

Kanetsky, Peter A; Almstrup, Kristian; Cherlin, Svetlana; Cortessis, Victoria K; Ferlin, Alberto; Gietema, Jourik A; González-Neira, Anna; Grotmol, Tom; Hamilton, Robert J; Haugen, Trine B; Kiemeney, Lambertus A; Kim, Jung; Krausz, Csilla; Lessel, Davor; Lothe, Ragnhild A; Nead, Kevin T; Nsengimana, Jérémie; Poynter, Jenny N; Rajpert-DeMeyts, Ewa; Richiardi, Lorenzo; Schwartz, Stephen M; Skotheim, Rolf I; Stewart, Douglas R; Turnbull, Clare; Wiklund, Fredrik; Zheng, Tongzhang; Nathanson, Katherine L; McGlynn, Katherine A

Correction: Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas

更正:源自NF1相关皮肤神经纤维瘤的雪旺细胞系的永生化和表征

Li, Hua; Pemov, Alexander; Allaway, Robert; Muir, David F; Chang, Lung-Ji; Banerjee, Jineta; Scott, Alexandra J; Nagy, Jaime M W; Liu, Jian; Carrió, Meritxell; Mazuelas, Helena; Yachnis, Anthony; Lee, Sang Y; Zhang, Xiaochun; Lyu, Yang; Stewart, Douglas R; Hirbe, Angela; Blakeley, Jaishri O; Serra, Eduard; Wallis, Deeann; Wallace, Margaret R

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas

NF1相关皮肤神经纤维瘤来源的雪旺细胞系的永生化和表征

Li, Hua; Pemov, Alexander; Allaway, Robert; Muir, David F; Chang, Lung-Ji; Banerjee, Jineta; Scott, Alexandra J; Nagy, Jaime M W; Liu, Jian; Carrió, Meritxell; Mazuelas, Helena; Yachnis, Anthony; Lee, Sang Y; Zhang, Xiaochun; Lyu, Yang; Stewart, Douglas R; Hirbe, Angela; Blakeley, Jaishri O; Serra, Eduard; Wallis, Deeann; Wallace, Margaret R

Wide Ranging Neurobehavioral Phenotype in Individuals With Costello Syndrome

科斯特洛综合征患者广泛的神经行为表型

Curlee, Millicent S; Siegel, Atara; Little, Paige; Toledo-Tamula, Mary Anne; Martin, Staci; Gross, Andrea M; Yohe, Marielle E; Aryavand, Margarita; Frone, Megan N; Ney, Gina M; Stewart, Douglas R; Wolters, Pamela L

Genomic ascertainment of PALB2 -related cancer predisposition

PALB2相关癌症易感性的基因组鉴定

Stewart, Douglas R; Kim, Jung; Haley, Jeremy S; Li, Jiang; Sargen, Michael R; Hong, Hyokyoung; Tischkowitz, Marc; McReynolds, Lisa J; Carey, David J

STK11 mutations and deletions define a distinct subtype of cervical adenocarcinoma

STK11 突变和缺失定义了一种独特的宫颈腺癌亚型。

Robinson, Emma; Murphy, Elisabeth; Albanez, Anaseidy; Tulsyan, Sonam; Lou, Hong; Xie, Yi; Zhou, Weiyin; Yang, Qian; Joe, Tawnjerae; Zhang, Tongwu; Liu, Jia; Luo, Wen; Wu, Dongling; Higson, Herbert; Viard, Mathias; Carrington, Mary; Oberley, Matt; Stewart, Douglas R; Morales, Hesler; Mirabello, Lisa; Alvirez, Enrique; Orozco, Roberto; Gharzouzi, Eduardo; Dean, Michael

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts

基于基因组的8个种系髓系恶性肿瘤易感基因的患病率和外显率测定:一项基于两个人群队列的研究

Hendricks, Rachel M; Kim, Jung; Haley, Jeremy S; Ramos, Mark Louie; Mirshahi, Uyenlinh L; Carey, David J; Stewart, Douglas R; McReynolds, Lisa J