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

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations

RNU6ATAC双等位基因变异会导致一种轻微的剪接病,其特征是转录组范围内的次要内含子保留和多系统表现。

Mendez, Rodrigo; Arriaga, Taylor M; Ma, Jialan; Bonner, Devon E; Emami, Sara; Levy, Rebecca J; Alsagheir, Afaf; Alhaddad, Bader; Bakur, Khadijah; Ungar, Rachel A; Matalon, Dena R; Miller, Alexander M; Nguyen, Jonathan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Ward, Alistair; Novacic, Danica; Alkuraya, Fowzan S; Bernstein, Jonathan A; Ganesh, Vijay S; O'Donnell-Luria, Anne; Montgomery, Stephen B; Wheeler, Matthew T

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

全转录组异常值方法识别患有轻微剪接异常的个体

Arriaga, Taylor M; Mendez, Rodrigo; Ungar, Rachel A; Bonner, Devon E; Matalon, Dena R; Lemire, Gabrielle; Goddard, Pagé C; Padhi, Evin M; Miller, Alexander M; Nguyen, Jonathan V; Ma, Jialan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Bademci, Guney; Bivona, Stephanie A; Tekin, Mustafa; Bernstein, Jonathan A; Montgomery, Stephen B; O'Donnell-Luria, Anne; Wheeler, Matthew T; Ganesh, Vijay S

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

全转录组异常值方法识别患有轻微剪接异常的个体

Arriaga, Maggie T; Mendez, Rodrigo; Ungar, Rachel A; Bonner, Devon E; Matalon, Dena R; Lemire, Gabrielle; Goddard, Pagé C; Padhi, Evin M; Miller, Alexander M; Nguyen, Jonathon V; Ma, Jialan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Bademci, Guney; Bivona, Stephanie A; Tekin, Mustafa; Bernstein, Jonathan A; Montgomery, Stephen B; O'Donnell-Luria, Anne; Wheeler, Matthew T; Ganesh, Vijay S

Multi-omic identification of key transcriptional regulatory programs during endurance exercise training in rats

利用多组学方法鉴定大鼠耐力运动训练过程中关键的转录调控程序

Smith, Gregory R; Zhao, Bingqing; Lindholm, Malene E; Raja, Archana; Viggars, Mark; Pincas, Hanna; Gay, Nicole R; Sun, Yifei; Ge, Yongchao; Nair, Venugopalan D; Sanford, James A; Amper, Mary Anne S; Vasoya, Mital; Smith, Kevin S; Montgomery, Stephen; Zaslavsky, Elena; Bodine, Sue C; Esser, Karyn A; Walsh, Martin J; Snyder, Michael P; Sealfon, Stuart C

Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures

运动训练引起的分子适应与组织特异性转录组和表观基因组特征相关。

Nair, Venugopalan D; Pincas, Hanna; Smith, Gregory R; Zaslavsky, Elena; Ge, Yongchao; Amper, Mary Anne S; Vasoya, Mital; Chikina, Maria; Sun, Yifei; Raja, Archana Natarajan; Mao, Weiguang; Gay, Nicole R; Esser, Karyn A; Smith, Kevin S; Zhao, Bingqing; Wiel, Laurens; Singh, Aditya; Lindholm, Malene E; Amar, David; Montgomery, Stephen; Snyder, Michael P; Walsh, Martin J; Sealfon, Stuart C

Impact of genome build on RNA-seq interpretation and diagnostics

基因组构建对RNA测序结果解读和诊断的影响

Ungar, Rachel A; Goddard, Pagé C; Jensen, Tanner D; Degalez, Fabien; Smith, Kevin S; Jin, Christopher A; Bonner, Devon E; Bernstein, Jonathan A; Wheeler, Matthew T; Montgomery, Stephen B

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

FAM177A1 是一种定位于高尔基体的蛋白质,其功能丧失会导致一种新的神经发育障碍

Kohler Jennefer N, Legro Nicole R, Baldridge Dustin, Shin Jimann, Bowman Angela, Ugur Berrak, Jackstadt Madelyn M, Shriver Leah P, Patti Gary J, Zhang Bo, Feng Wenjia, McAdow Anthony R, Goddard Pagé, Ungar Rachel A, Jensen Tanner, Smith Kevin S, Fresard Laure, Alvarez Raquel, Bonner Devon, Reuter Chloe M, McCormack Colleen, Kravets Elijah, Marwaha Shruti, Holt James M, Worthey Elizabeth A, Ashley Euan A, Montgomery Stephen B, Fisher Paul G, Postlethwait John, De Camilli Pietro, Solnica-Krezel Lila, Bernstein Jonathan A, Wheeler Matthew T

Molecular Transducers of Physical Activity Consortium (MoTrPAC): human studies design and protocol

体力活动分子转导联盟(MoTrPAC):人体研究设计和方案

Jakicic, John M; Kohrt, Wendy M; Houmard, Joseph A; Miller, Michael E; Radom-Aizik, Shlomit; Rasmussen, Blake B; Ravussin, Eric; Serra, Monica; Stowe, Cynthia L; Trappe, Scott; Abouassi, Hiba; Adkins, Joshua N; Alekel, D Lee; Ashley, Euan; Bamman, Marcas M; Bergman, Bryan C; Bessesen, Daniel H; Broskey, Nicholas T; Buford, Thomas W; Burant, Charles F; Chen, Haiying; Christle, Jeffrey W; Clish, Clary B; Coen, Paul M; Collier, David; Collins, Katherine A; Cooper, Daniel M; Cortes, Tiffany; Cutter, Gary R; Dubis, Gabriel; Fernández, Facundo M; Firnhaber, Jonathon; Forman, Daniel E; Gaul, David A; Gay, Nicole; Gerszten, Robert E; Goodpaster, Bret H; Gritsenko, Marina A; Haddad, Fadia; Huffman, Kim M; Ilkayeva, Olga; Jankowski, Catherine M; Jin, Christopher; Johannsen, Neil M; Johnson, Johanna; Kelly, Leslie; Kershaw, Erin; Kraus, William E; Laughlin, Maren; Lester, Bridget; Lindholm, Malene E; Lowe, Adam; Lu, Ching-Ju; McGowan, Joan; Melanson, Edward L; Montgomery, Stephen; Moore, Samuel G; Moreau, Kerrie L; Muehlbauer, Michael; Musi, Nicolas; Nair, Venugopalan D; Newgard, Christopher B; Newman, Anne B; Nicklas, Barbara; Nindl, Bradley C; Ormond, Kelly; Piehowski, Paul D; Qian, Wei-Jun; Rankinen, Tuomo; Rejeski, W Jack; Robbins, Jeremy; Rogers, Renee J; Rooney, Jessica L; Rushing, Scott; Sanford, James A; Schauer, Irene E; Schwartz, Robert S; Sealfon, Stuart C; Slentz, Cris; Sloan, Ruben; Smith, Kevin S; Snyder, Michael; Spahn, Jessica; Sparks, Lauren M; Stefanovic-Racic, Maja; Tanner, Charles J; Thalacker-Mercer, Anna; Tracy, Russell; Trappe, Todd A; Volpi, Elena; Walsh, Martin J; Wheeler, Matthew T; Willis, Leslie

Impact of genome build on RNA-seq interpretation and diagnostics

基因组构建对RNA测序结果解读和诊断的影响

Ungar, Rachel A; Goddard, Pagé C; Jensen, Tanner D; Degalez, Fabien; Smith, Kevin S; Jin, Christopher A; Bonner, Devon E; Bernstein, Jonathan A; Wheeler, Matthew T; Montgomery, Stephen B

Transcriptomics and chromatin accessibility in multiple African population samples

非洲多个人群样本的转录组学和染色质可及性

DeGorter, Marianne K; Goddard, Page C; Karakoc, Emre; Kundu, Soumya; Yan, Stephanie M; Nachun, Daniel; Abell, Nathan; Aguirre, Matthew; Carstensen, Tommy; Chen, Ziwei; Durrant, Matthew; Dwaracherla, Vikranth R; Feng, Karen; Gloudemans, Michael J; Hunter, Naiomi; Moorthy, Mohana P S; Pomilla, Cristina; Rodrigues, Kameron B; Smith, Courtney J; Smith, Kevin S; Ungar, Rachel A; Balliu, Brunilda; Fellay, Jacques; Flicek, Paul; McLaren, Paul J; Henn, Brenna; McCoy, Rajiv C; Sugden, Lauren; Kundaje, Anshul; Sandhu, Manjinder S; Gurdasani, Deepti; Montgomery, Stephen B