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

A Sensitized ENU Mutagenesis Screen for Thrombosis Modifiers Identifies Suppressor Variants in Non-mutagenized Parental Generations Due to Antithrombotic Selective Pressures

针对血栓形成修饰因子的敏感ENU诱变筛选,由于抗血栓选择压力,在未诱变亲代中发现了抑制性变异体。

Brake, Marisa A; Cleuren, Audrey C; Torres, Sydney; van der Ent, Martijn A; Zhu, Guojing; Kulchycki, Justin; Parsons, Tyler M; Schneider, Caitlin D; Jurek, Adrianna M; MacFadyen, Kailey; Siebert, Amy E; Siemieniak, David R; Timms, Andrew E; Beier, David R; Westrick, Randal J

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

对局灶性脑畸形中PI3K-AKT-MTOR变异体的分析揭示了诊断护理的新见解

Pirozzi, Filomena; Berkseth, Matthew; Shear, Rylee; Gonzalez, Lorenzo; Timms, Andrew E; Sulc, Josef; Pao, Emily; Oyama, Nora; Forzano, Francesca; Conti, Valerio; Guerrini, Renzo; Doherty, Emily S; Saitta, Sulagna C; Lockwood, Christina M; Pritchard, Colin C; Dobyns, William B; Novotny, Edward; Wright, Jason N N; Saneto, Russell P; Friedman, Seth; Hauptman, Jason; Ojemann, Jeffrey; Kapur, Raj P; Mirzaa, Ghayda M

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

RELN基因的单等位基因和双等位基因突变是导致一系列神经发育障碍的根本原因。

Di Donato, Nataliya; Guerrini, Renzo; Billington, Charles J; Barkovich, A James; Dinkel, Philine; Freri, Elena; Heide, Michael; Gershon, Elliot S; Gertler, Tracy S; Hopkin, Robert J; Jacob, Suma; Keedy, Sarah K; Kooshavar, Daniz; Lockhart, Paul J; Lohmann, Dietmar R; Mahmoud, Iman G; Parrini, Elena; Schrock, Evelin; Severi, Giulia; Timms, Andrew E; Webster, Richard I; Willis, Mary J H; Zaki, Maha S; Gleeson, Joseph G; Leventer, Richard J; Dobyns, William B

Anti-tumor activity of a T-helper 1 multiantigen vaccine in a murine model of prostate cancer

T辅助细胞1多抗原疫苗在小鼠前列腺癌模型中的抗肿瘤活性

Cecil, Denise L; Curtis, Benjamin; Gad, Ekram; Gormley, Michael; Timms, Andrew E; Corulli, Lauren; Bos, Rinke; Damle, Rajendra N; Sepulveda, Manuel A; Disis, Mary L

Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis-Regulatory Elements

利用机器学习预测人类视网膜顺式调控元件中非编码变异的影响

VandenBosch, Leah S; Luu, Kelsey; Timms, Andrew E; Challam, Shriya; Wu, Yue; Lee, Aaron Y; Cherry, Timothy J

Haploinsufficiency of SF3B2 causes craniofacial microsomia

SF3B2单倍体不足导致颅面短小症

Timberlake, Andrew T; Griffin, Casey; Heike, Carrie L; Hing, Anne V; Cunningham, Michael L; Chitayat, David; Davis, Mark R; Doust, Soghra J; Drake, Amelia F; Duenas-Roque, Milagros M; Goldblatt, Jack; Gustafson, Jonas A; Hurtado-Villa, Paula; Johns, Alexis; Karp, Natalya; Laing, Nigel G; Magee, Leanne; Mullegama, Sureni V; Pachajoa, Harry; Porras-Hurtado, Gloria L; Schnur, Rhonda E; Slee, Jennie; Singer, Steven L; Staffenberg, David A; Timms, Andrew E; Wise, Cheryl A; Zarante, Ignacio; Saint-Jeannet, Jean-Pierre; Luquetti, Daniela V

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis

自身免疫风险R262W变异的接头蛋白SH2B3可提高脓毒症患者的生存率

Allenspach, Eric J; Shubin, Nicholas J; Cerosaletti, Karen; Mikacenic, Carmen; Gorman, Jacquelyn A; MacQuivey, Matthew A; Rosen, Aaron B I; Timms, Andrew E; Wray-Dutra, Michelle N; Niino, Kerri; Liggitt, Denny; Wurfel, Mark M; Buckner, Jane H; Piliponsky, Adrian M; Rawlings, David J

Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain

雷特综合征脑颞叶皮层和扣带回皮层的转录组数据

Aldinger, Kimberly A; Timms, Andrew E; MacDonald, James W; McNamara, Hanna K; Herstein, Jennifer S; Bammler, Theo K; Evgrafov, Oleg V; Knowles, James A; Levitt, Pat

MYT1 role in the microtia-craniofacial microsomia spectrum

MYT1 在小耳畸形-颅面短小症谱系中的作用

Luquetti, Daniela V; Heike, Carrie L; Zarante, Ignacio; Timms, Andrew E; Gustafson, Jonas; Pachajoa, Harry; Porras-Hurtado, Gloria L; Ayala-Ramirez, Paola; Duenas-Roque, Milagros M; Jimenez, Natalia; Ibanez, Lina M; Hurtado-Villa, Paula