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

A single next generation sequencing assay for detection of driver mutations, rearrangements and copy number abnormalities in plasma cell dyscrasias

一种用于检测浆细胞疾病中驱动突变、重排和拷贝数异常的单次新一代测序检测方法

Bonolo de Campos, Cecilia; Trujillo, Daniela; Smadbeck, James; Arribas, Mariano; Tang, Hongwei; Sharma, Neeraj; Ahmann, Gregory J; Kumar, Shaji K; Stewart, A Keith; Fonseca, Rafael; Bergsagel, P Leif; Asmann, Yan W; Baughn, Linda B; Braggio, Esteban

A resource of "bottom-line" variant associations for 1,281 complex traits by integrating data across published genome-wide association studies

通过整合已发表的全基因组关联研究数据,我们获得了1281个复杂性状的“最终”变异关联资源。

Nguyen, Trang; Büyükgöl, Furkan; Smadbeck, Patrick; Massung, Jeffrey; Costanzo, Maria C; Ruiz, Monica; Dornbos, Peter; Yoshiji, Satoshi; Koesterer, Ryan; Nguyen, Thanh Long; Jang, Dongkeun; Hoang, Quy; Ji, Yue; McMahon, Aoife; Sengupta, Sebanti; Yin, Xianyong; Ryan, Brady; Welch, Ryan P; Treur, Jorien; Bezzina, Connie R; Abecasis, Goncalo; Boehnke, Michael; Burtt, Noël P; Flannick, Jason

Functional variant rs9344 at 11q13.3 regulates CCND1 expression in multiple myeloma with t(11;14)

11q13.3 处的功能性变异 rs9344 调控 t(11;14) 多发性骨髓瘤中的 CCND1 表达

Tang, Hongwei; Yan, Huihuang; Shivaram, Suganti; Lehman, Stacey; Sharma, Neeraj; Smadbeck, James; Zepeda-Mendoza, Cinthya; Tian, Shulan; Asmann, Yan; Vachon, Celine; Gaspar Maia, Alexandre; Keats, Jonathan; Bergsagel, P Leif; Fonseca, Rafael; Stewart, A Keith; Hsu, Joel-Sean; Kandasamy, Richard K; Pandey, Akhilesh; Kaddoura, Marcella A; Maura, Francesco; Mitra, Amit; Rajkumar, S Vincent; Kumar, Shaji K; Elhaik, Eran; Braggio, Esteban; Baughn, Linda B

Genomic and Immune Landscape of Pancreatic Ductal Adenocarcinoma Associated with Germline Pathogenic Variants in ATM.

与 ATM 基因种系致病变异相关的胰腺导管腺癌的基因组和免疫图谱。

Yadav Siddhartha, Bao Riyue, Graham Rondell P, Hu Chunling, Hart Steven N, Na Jie, Boddicker Nicholas, Gnanaolivu Rohan D, Smadbeck James, Ding Li, Billadeau Daniel D, Mayer Aaron T, Majumder Shounak, Morais Lyra Paulo Cilas, Lee Adrian V, Monteiro Alvaro N, Villasboas Jose C, McWilliams Robert, Couch Fergus J

Personalized Tumor-Specific Amplified DNA Junctions in Peripheral Blood of Patients with High-Grade Gliomas

高级别胶质瘤患者外周血中肿瘤特异性扩增DNA连接点的个体化检测

Mohamed F Ali ,Cecile Riviere-Cazaux ,Sarah H Johnson ,Rebecca Salvatori ,Alan R Penheiter ,James B Smadbeck ,Stephen J Murphy ,Faye R Harris ,Lex F McCune ,Lucas P Carlstrom ,Michael T Barrett ,Farhad Kosari ,Leila A Jones ,Cristiane Ida ,Mitesh J Borad ,Bernard R Bendok ,Alfredo Quiñones-Hinojosa ,Alyx B Porter ,Maciej M Mrugala ,Kurt A Jaeckle ,Panos Z Anastasiadis ,Sani H Kizilbash ,John C Cheville ,David M Routman ,Terry C Burns ,George Vasmatzis

Tumor ploidy determination in low-pass whole genome sequencing and allelic copy number visualization using the Constellation Plot

利用星座图进行低深度全基因组测序中的肿瘤倍性测定和等位基因拷贝数可视化。

Johnson, Sarah H; Smadbeck, James B; Zenka, Roman M; Barrett, Michael T; Gaitatzes, Athanasios; Solanki, Arnav; Florio, Angela B; Borad, Mitesh J; Cheville, John C; Vasmatzis, George

Functional impact of the hyperduplication genomophenotype in high copy number endometrial cancer.

高拷贝数子宫内膜癌中超重复基因表型的功能影响

Florio Angela, Smadbeck James, Johnson Sarah H, Lin Wan-Hsin, Sadeghian Dorsay, Sotiriou Sotiris, Salvatori Rebeca, Feathers Ryan W, Berry Taylor, Kinsella Lindsey, Harris Faye R, McCune Alexa F, Murphy Stephen J, Ali Mohamed F, Pezeshki Abdulmohammad, Barrett Michael T, Grcevich Leah, Capasso Ilaria, De Vitis Luigi Antonio, Schivardi Gabriella, Occhiali Tommaso, Larish Alyssa M, Weroha John, Borad Mitesh J, Cheville John, Anastasiadis Panos Z, Mariani Andrea, Vasmatzis George

Erratum: The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources

更正:神经退行性疾病知识门户:通过共享神经退行性疾病基因组资源推动发现

Dilliott, Allison A; Costanzo, Maria C; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Casey, Bradford; Hoang, Quy; Iwaki, Hirotaka; Jang, Dongkeun; Kim, Jonggeol Jeffrey; Leonard, Hampton L; Levine, Kristin S; Makarious, Mary; Nguyen, Trang T; Rouleau, Guy A; Singleton, Andrew B; Smadbeck, Patrick; Solle, J; Vitale, Dan; Nalls, Mike; Flannick, Jason; Burtt, Noël P; Farhan, Sali M K

The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources

神经退行性疾病知识门户:通过共享神经退行性疾病基因组资源推动发现

Dilliott, Allison A; Costanzo, Maria C; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Casey, Bradford; Hoang, Quy; Iwaki, Hirotaka; Jang, Dongkeun; Kim, Jonggeol Jeffrey; Leonard, Hampton L; Levine, Kristin S; Makarious, Mary; Nguyen, Trang T; Rouleau, Guy A; Singleton, Andrew B; Smadbeck, Patrick; Solle, J; Vitale, Dan; Nalls, Mike; Flannick, Jason; Burtt, Noël P; Farhan, Sali M K

GWASHub: An Automated Cloud-Based Platform for Genome-Wide Association Study Meta-Analysis

GWASHub:用于全基因组关联研究荟萃分析的自动化云平台

Sunderland, Nicholas; Hite, Drew; Smadbeck, Patrick; Hoang, Quy; Jang, Dong-Keun; Tragante, Vinicius; Jiang, Jiayue-Clara; Shah, Sonia; Paternoster, Lavinia; Burtt, Noel P; Flannick, Jason; Lumbers, R Thomas