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

Rare germline structural variants increase risk for pediatric solid tumors

罕见的种系结构变异会增加儿童实体瘤的风险

Gillani, Riaz; Collins, Ryan L; Crowdis, Jett; Garza, Amanda; Jones, Jill K; Walker, Mark; Sanchis-Juan, Alba; Whelan, Christopher W; Pierce-Hoffman, Emma; Talkowski, Michael E; Brand, Harrison; Haigis, Kevin; LoPiccolo, Jaclyn; AlDubayan, Saud H; Gusev, Alexander; Crompton, Brian D; Janeway, Katherine A; Van Allen, Eliezer M

The network response to Egf is tissue-specific.

网络对 EGF 的反应具有组织特异性

Awasthi Beatrice W, Paulo João A, Burkhart Deborah L, Smith Ian R, Collins Ryan L, Harper J Wade, Gygi Steven P, Haigis Kevin M

Aberrant recursive splicing in a human disease locus

人类疾病位点中的异常递归剪接

Boone, Philip M; Harripaul, Ricardo; Yadav, Rachita; Grzybowski, Michael; Hanafy, Mahmoud K; Lee, Amanda C; Choi, Esther Y; Collins, Ryan L; Polesskaya, Oksana; Makhortova, Nina; Larson, Matthew O; Kayir, Hakan; Wang, Yizhi; Avila, Rodolfo A; Frie, Jude A; Eed, Amr; Albeely, Abdalla M; Venmuri, Sunitha; Ayoub, Samantha M; Lemanski, John M; Ben-Isvy, Daniel; Zhao, Xuefang; Sanchis-Juan, Alba; Handley, Maris; Erdin, Serkan; de Esch, Celine; Mohajeri, Kiana; Chen, Clementine; Tovar, Paulina Gonzalez; Salani, Monica; Oliveira, Mariana Moyses; Tai, Derek J C; Currall, Benjamin; McGraw, Christopher; Slaughenhaupt, Susan; Doan, Ryan; Gao, Dadi; Gusella, James F; Sanchez-Roige, Sandra; Young, Jared; Khokar, Jibran; Geurts, Aron M; Palmer, Abraham A; Talkowski, Michael E

Simulation and empirical evaluation of biologically-informed neural network performance

生物信息神经网络性能的模拟和实证评估

Miller, Gwen A; Roman, Ahmed; Glettig, Marc; Elmarakeby, Haitham A; AlDubayan, Saud H; Park, Jihye; Collins, Ryan L; Van Allen, Eliezer M

A genomic mutational constraint map using variation in 76,156 human genomes

利用76156个人类基因组的变异构建基因组突变约束图谱

Chen, Siwei; Francioli, Laurent C; Goodrich, Julia K; Collins, Ryan L; Kanai, Masahiro; Wang, Qingbo; Alföldi, Jessica; Watts, Nicholas A; Vittal, Christopher; Gauthier, Laura D; Poterba, Timothy; Wilson, Michael W; Tarasova, Yekaterina; Phu, William; Grant, Riley; Yohannes, Mary T; Koenig, Zan; Farjoun, Yossi; Banks, Eric; Donnelly, Stacey; Gabriel, Stacey; Gupta, Namrata; Ferriera, Steven; Tolonen, Charlotte; Novod, Sam; Bergelson, Louis; Roazen, David; Ruano-Rubio, Valentin; Covarrubias, Miguel; Llanwarne, Christopher; Petrillo, Nikelle; Wade, Gordon; Jeandet, Thibault; Munshi, Ruchi; Tibbetts, Kathleen; O'Donnell-Luria, Anne; Solomonson, Matthew; Seed, Cotton; Martin, Alicia R; Talkowski, Michael E; Rehm, Heidi L; Daly, Mark J; Tiao, Grace; Neale, Benjamin M; MacArthur, Daniel G; Karczewski, Konrad J

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

小鼠脑和人类神经元模型中16p11.2相互基因组紊乱的组织和细胞类型特异性分子和功能特征

Tai, Derek J C; Razaz, Parisa; Erdin, Serkan; Gao, Dadi; Wang, Jennifer; Nuttle, Xander; de Esch, Celine E; Collins, Ryan L; Currall, Benjamin B; O'Keefe, Kathryn; Burt, Nicholas D; Yadav, Rachita; Wang, Lily; Mohajeri, Kiana; Aneichyk, Tatsiana; Ragavendran, Ashok; Stortchevoi, Alexei; Morini, Elisabetta; Ma, Weiyuan; Lucente, Diane; Hastie, Alex; Kelleher, Raymond J; Perlis, Roy H; Talkowski, Michael E; Gusella, James F

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

GATK-gCNV能够从外显子组测序数据中发现罕见的拷贝数变异。

Babadi, Mehrtash; Fu, Jack M; Lee, Samuel K; Smirnov, Andrey N; Gauthier, Laura D; Walker, Mark; Benjamin, David I; Zhao, Xuefang; Karczewski, Konrad J; Wong, Isaac; Collins, Ryan L; Sanchis-Juan, Alba; Brand, Harrison; Banks, Eric; Talkowski, Michael E

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

对 741,075 名个体进行全基因组癫痫相关拷贝数变异的鉴定和表型表征

Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

系统评价基因组测序在自闭症谱系障碍和胎儿结构异常诊断中的应用

Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L; Wang, Harold Z; Currall, Benjamin B; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E; Whelan, Christopher W; Hao, Stephanie P; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L; Zhao, Xuefang; Austin-Tse, Christina A; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S; Lucente, Diane; Gauthier, Laura D; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E; MacKenzie, Tippi C; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J; MacArthur, Daniel G; Hodge, Jennelle C; O'Donnell-Luria, Anne; Rehm, Heidi L; Vora, Neeta L; Levy, Brynn; Brand, Harrison; Wapner, Ronald J; Talkowski, Michael E

Genome-Wide Analysis of Structural Variants in Parkinson Disease

帕金森病结构变异的全基因组分析

Billingsley, Kimberley J; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P; Makarious, Mary B; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Chia, Ruth; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Quinn, John P; Bubb, Vivien J; Collins, Ryan L; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison; Talkowski, Michael E; Casey, Bradford; Cookson, Mark R; Markham, Androo; Nalls, Mike A; Mahmoud, Medhat; Sedlazeck, Fritz J; Blauwendraat, Cornelis; Gibbs, J Raphael; Singleton, Andrew B