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

Induced Pluripotent Stem Cell Model of Pulmonary Arterial Hypertension Reveals Novel Gene Expression and Patient Specificity

诱导多能干细胞肺动脉高压模型揭示新的基因表达和患者特异性

Sa, Silin; Gu, Mingxia; Chappell, James; Shao, Ning-Yi; Ameen, Mohamed; Elliott, Kathryn A T; Li, Dan; Grubert, Fabian; Li, Caiyun G; Taylor, Shalina; Cao, Aiqin; Ma, Yu; Fong, Ryan; Nguyen, Long; Wu, Joseph C; Snyder, Michael P; Rabinovitch, Marlene

Architecture of the human regulatory network derived from ENCODE data

基于ENCODE数据的人类调控网络架构

Gerstein, Mark B; Kundaje, Anshul; Hariharan, Manoj; Landt, Stephen G; Yan, Koon-Kiu; Cheng, Chao; Mu, Xinmeng Jasmine; Khurana, Ekta; Rozowsky, Joel; Alexander, Roger; Min, Renqiang; Alves, Pedro; Abyzov, Alexej; Addleman, Nick; Bhardwaj, Nitin; Boyle, Alan P; Cayting, Philip; Charos, Alexandra; Chen, David Z; Cheng, Yong; Clarke, Declan; Eastman, Catharine; Euskirchen, Ghia; Frietze, Seth; Fu, Yao; Gertz, Jason; Grubert, Fabian; Harmanci, Arif; Jain, Preti; Kasowski, Maya; Lacroute, Phil; Leng, Jing Jane; Lian, Jin; Monahan, Hannah; O'Geen, Henriette; Ouyang, Zhengqing; Partridge, E Christopher; Patacsil, Dorrelyn; Pauli, Florencia; Raha, Debasish; Ramirez, Lucia; Reddy, Timothy E; Reed, Brian; Shi, Minyi; Slifer, Teri; Wang, Jing; Wu, Linfeng; Yang, Xinqiong; Yip, Kevin Y; Zilberman-Schapira, Gili; Batzoglou, Serafim; Sidow, Arend; Farnham, Peggy J; Myers, Richard M; Weissman, Sherman M; Snyder, Michael

Personal omics profiling reveals dynamic molecular and medical phenotypes

个人组学分析揭示动态的分子和医学表型

Chen, Rui; Mias, George I; Li-Pook-Than, Jennifer; Jiang, Lihua; Lam, Hugo Y K; Chen, Rong; Miriami, Elana; Karczewski, Konrad J; Hariharan, Manoj; Dewey, Frederick E; Cheng, Yong; Clark, Michael J; Im, Hogune; Habegger, Lukas; Balasubramanian, Suganthi; O'Huallachain, Maeve; Dudley, Joel T; Hillenmeyer, Sara; Haraksingh, Rajini; Sharon, Donald; Euskirchen, Ghia; Lacroute, Phil; Bettinger, Keith; Boyle, Alan P; Kasowski, Maya; Grubert, Fabian; Seki, Scott; Garcia, Marco; Whirl-Carrillo, Michelle; Gallardo, Mercedes; Blasco, Maria A; Greenberg, Peter L; Snyder, Phyllis; Klein, Teri E; Altman, Russ B; Butte, Atul J; Ashley, Euan A; Gerstein, Mark; Nadeau, Kari C; Tang, Hua; Snyder, Michael

Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data

基于千人基因组计划外显子捕获测序数据的拷贝数变异检测

Wu, Jiantao; Grzeda, Krzysztof R; Stewart, Chip; Grubert, Fabian; Urban, Alexander E; Snyder, Michael P; Marth, Gabor T

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

DNMT1基因突变会导致常染色体显性遗传性小脑共济失调、耳聋和发作性睡病。

Winkelmann, Juliane; Lin, Ling; Schormair, Barbara; Kornum, Birgitte R; Faraco, Juliette; Plazzi, Giuseppe; Melberg, Atle; Cornelio, Ferdinando; Urban, Alexander E; Pizza, Fabio; Poli, Francesca; Grubert, Fabian; Wieland, Thomas; Graf, Elisabeth; Hallmayer, Joachim; Strom, Tim M; Mignot, Emmanuel

Mapping copy number variation by population-scale genome sequencing

利用群体规模基因组测序绘制拷贝数变异图谱

Mills, Ryan E; Walter, Klaudia; Stewart, Chip; Handsaker, Robert E; Chen, Ken; Alkan, Can; Abyzov, Alexej; Yoon, Seungtai Chris; Ye, Kai; Cheetham, R Keira; Chinwalla, Asif; Conrad, Donald F; Fu, Yutao; Grubert, Fabian; Hajirasouliha, Iman; Hormozdiari, Fereydoun; Iakoucheva, Lilia M; Iqbal, Zamin; Kang, Shuli; Kidd, Jeffrey M; Konkel, Miriam K; Korn, Joshua; Khurana, Ekta; Kural, Deniz; Lam, Hugo Y K; Leng, Jing; Li, Ruiqiang; Li, Yingrui; Lin, Chang-Yun; Luo, Ruibang; Mu, Xinmeng Jasmine; Nemesh, James; Peckham, Heather E; Rausch, Tobias; Scally, Aylwyn; Shi, Xinghua; Stromberg, Michael P; Stütz, Adrian M; Urban, Alexander Eckehart; Walker, Jerilyn A; Wu, Jiantao; Zhang, Yujun; Zhang, Zhengdong D; Batzer, Mark A; Ding, Li; Marth, Gabor T; McVean, Gil; Sebat, Jonathan; Snyder, Michael; Wang, Jun; Ye, Kenny; Eichler, Evan E; Gerstein, Mark B; Hurles, Matthew E; Lee, Charles; McCarroll, Steven A; Korbel, Jan O

A comprehensive map of mobile element insertion polymorphisms in humans.

人类移动元件插入多态性的综合图谱

Stewart Chip, Kural Deniz, Strömberg Michael P, Walker Jerilyn A, Konkel Miriam K, Stütz Adrian M, Urban Alexander E, Grubert Fabian, Lam Hugo Y K, Lee Wan-Ping, Busby Michele, Indap Amit R, Garrison Erik, Huff Chad, Xing Jinchuan, Snyder Michael P, Jorde Lynn B, Batzer Mark A, Korbel Jan O, Marth Gabor T

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

通过对人类节段性三体进行高分辨率分析揭示唐氏综合征表型的遗传结构

Korbel, Jan O; Tirosh-Wagner, Tal; Urban, Alexander Eckehart; Chen, Xiao-Ning; Kasowski, Maya; Dai, Li; Grubert, Fabian; Erdman, Chandra; Gao, Michael C; Lange, Ken; Sobel, Eric M; Barlow, Gillian M; Aylsworth, Arthur S; Carpenter, Nancy J; Clark, Robin Dawn; Cohen, Monika Y; Doran, Eric; Falik-Zaccai, Tzipora; Lewin, Susan O; Lott, Ira T; McGillivray, Barbara C; Moeschler, John B; Pettenati, Mark J; Pueschel, Siegfried M; Rao, Kathleen W; Shaffer, Lisa G; Shohat, Mordechai; Van Riper, Alexander J; Warburton, Dorothy; Weissman, Sherman; Gerstein, Mark B; Snyder, Michael; Korenberg, Julie R

A procedure for highly specific, sensitive, and unbiased whole-genome amplification.

一种具有高度特异性、灵敏度和无偏性的全基因组扩增方法

Pan Xinghua, Urban Alexander Eckehart, Palejev Dean, Schulz Vincent, Grubert Fabian, Hu Yiping, Snyder Michael, Weissman Sherman M

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

人类基因组拷贝数变异和片段重复的分析:近期进化史中形成过程发生变化的证据

Kim, Philip M; Lam, Hugo Y K; Urban, Alexander E; Korbel, Jan O; Affourtit, Jason; Grubert, Fabian; Chen, Xueying; Weissman, Sherman; Snyder, Michael; Gerstein, Mark B