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

Consistently processed RNA sequencing data from 50 sources enriched for pediatric data

一致处理的来自 50 个来源的 RNA 测序数据,其中儿科数据尤为丰富。

Beale, Holly C; Learned, Katrina; Kephart, Ellen T; Lyle, A Geoffrey; van den Bout, Anouk; McCabe, Molly; Echandia-Monroe, Kathryn; Khare, Mansi J; Huang, Elise Y; Jariwala, Sneha; Antilla, Reyna; Cheney, Allison; Lee, Alex G; Sayles, Leanne C; Leung, Stanley G; Vasquez, Yvonne A; Sanders, Lauren; Haussler, David; Salama, Sofie R; Sweet-Cordero, E Alejandro; Vaske, Olena M

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

DEGS1 中的一种新型剪接位点变异导致异常剪接和 DEGS1 酶活性丧失,这是一个已解决的 VUS

Beale Holly C, Tse Victor, Lee Joanna Y, Akutagawa Jon, Mavura Yusuph, Saint-John Brandon, Cheney Allison, Mulligan Dennis R, Chacaltana Guillermo, Gutierrez Martin, Tenney Jessica, Shieh Joseph T, Martin Pierre-Marie, Yip Tiffany, Hodoglugil Ugur, Fay Alex J, Brooks Angela N, Van Ziffle Jessica, Stone Michael D, Risch Neil, Sanford Jeremy R, Devine Patrick, Saba Julie D, Vaske Olena M, Slavotinek Anne

An ERK5-PFKFB3 axis regulates glycolysis and represents a therapeutic vulnerability in pediatric diffuse midline glioma.

ERK5-PFKFB3 轴调节糖酵解,是儿童弥漫性中线胶质瘤的治疗弱点。

Casillo Stephanie M, Gatesman Taylor A, Chilukuri Akanksha, Varadharajan Srinidhi, Johnson Brenden J, David Premkumar Daniel R, Jane Esther P, Plute Tritan J, Koncar Robert F, Stanton Ann-Catherine J, Biagi-Junior Carlos A O, Barber Callie S, Halbert Matthew E, Golbourn Brian J, Halligan Katharine, Cruz Andrea F, Mansi Neveen M, Cheney Allison, Mullett Steven J, Land Clinton Van't, Perez Jennifer L, Myers Max I, Agrawal Nishant, Michel Joshua J, Chang Yue-Fang, Vaske Olena M, MichaelRaj Antony, Lieberman Frank S, Felker James, Shiva Sruti, Bertrand Kelsey C, Amankulor Nduka, Hadjipanayis Costas G, Abdullah Kalil G, Zinn Pascal O, Friedlander Robert M, Abel Taylor J, Nazarian Javad, Venneti Sriram, Filbin Mariella G, Gelhaus Stacy L, Mack Stephen C, Pollack Ian F, Agnihotri Sameer

Machine learning multi-omics analysis reveals cancer driver dysregulation in pan-cancer cell lines compared to primary tumors

机器学习多组学分析揭示泛癌细胞系与原发肿瘤相比存在癌症驱动基因失调

Sanders, Lauren M; Chandra, Rahul; Zebarjadi, Navid; Beale, Holly C; Lyle, A Geoffrey; Rodriguez, Analiz; Kephart, Ellen Towle; Pfeil, Jacob; Cheney, Allison; Learned, Katrina; Currie, Rob; Gitlin, Leonid; Vengerov, David; Haussler, David; Salama, Sofie R; Vaske, Olena M