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

Kauro, a graph-based chatbot for high-fidelity information transmission conversations

Kauro,一款基于图的聊天机器人,用于高保真信息传输对话

King, Charles Hadley; Barrick, Rebekah; Almalvez, Miguel; Blanco, Kirsten; De Dios, Ivan; Fusaro, Vincent A; Délot, Emmanuèle; Donohue, Chris; Berger, Seth; Xiao, Changrui; Vilain, Eric; LoTempio, Jonathan

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

基因组测序揭示了假外显子在罕见遗传病中的作用

Pitsava, Georgia; Hawley, Megan; Auriga, Light; de Dios, Ivan; Ko, Arthur; Marmolejos, Sofia; Almalvez, Miguel; Chen, Ingrid; Scozzaro, Kaylee; Zhao, Jianhua; Barrick, Rebekah; Ah Mew, Nicholas; Fusaro, Vincent A; LoTempio, Jonathan; Taylor, Matthew; Mestroni, Luisa; Graw, Sharon; Milewicz, Dianna; Guo, Dongchuan; Murdock, David R; Bujakowska, Kinga M; Xiao, Changrui; Délot, Emmanuèle C; Berger, Seth I; Vilain, Eric

Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic

与母亲暴露于 COVID-19 疫情相关的全基因组新生儿表观遗传变化

Kocher, Kristen; Bhattacharya, Surajit; Niforatos-Andescavage, Nickie; Almalvez, Miguel; Henderson, Diedtra; Vilain, Eric; Limperopoulos, Catherine; Délot, Emmanuèle C

Long-read single-molecule maps of the functional methylome

功能甲基化组的长读单分子图谱

Hila Sharim #, Assaf Grunwald #, Tslil Gabrieli, Yael Michaeli, Sapir Margalit, Dmitry Torchinsky, Rani Arielly, Gil Nifker, Matyas Juhasz, Felix Gularek, Miguel Almalvez, Brandon Dufault, Sreetama Sen Chandra, Alexander Liu, Surajit Bhattacharya, Yi-Wen Chen, Eric Vilain, Kathryn R Wagner, Jonathan

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y (POS) mouse model

利用C57BL/6J-Y (POS)小鼠模型鉴定46,XY性发育异常(DSD)的新候选基因

Barseghyan, Hayk; Symon, Aleisha; Zadikyan, Mariam; Almalvez, Miguel; Segura, Eva E; Eskin, Ascia; Bramble, Matthew S; Arboleda, Valerie A; Baxter, Ruth; Nelson, Stanley F; Délot, Emmanuèle C; Harley, Vincent; Vilain, Eric

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

新一代测序技术:一种用于检测致病性结构变异的新方法,具有潜在的临床诊断应用价值。

Barseghyan, Hayk; Tang, Wilson; Wang, Richard T; Almalvez, Miguel; Segura, Eva; Bramble, Matthew S; Lipson, Allen; Douine, Emilie D; Lee, Hane; Délot, Emmanuèle C; Nelson, Stanley F; Vilain, Eric