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

Identification of de novo variants from parent-proband duos via long-read sequencing

利用长读长测序技术从父母-先证者配对样本中鉴定新生变异。

Boukas, Leandros; Délot, Emmanuèle C; Pitsava, Georgia; Lambert, Christine; Fanslow, Cairbre; Baybayan, Primo; Belhadj, Sami; Losic, Bojan; Harting, John; Bluske, Krista; LoTempio, Jonathan; Al-Kouatly, Huda B; Karam, Rachid; Rowell, William J; Xiao, Changrui; Vilain, Eric; Berger, Seth I

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

Genetic and pharmacologic modulation of RAGE rescues the diabetes-mediated impairments to bone at multiple length scales

通过基因和药物手段调节RAGE可以挽救糖尿病引起的多尺度骨骼损伤。

Broz, Kaitlyn S; Hung, Timothy; Walk, Remy E; LoTempio, Suzanne; Flores, Katharine M; Tang, Simon Y

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Impact of the 23andMe bankruptcy on preserving the public benefit of scientific data

23andMe破产对维护科学数据公共利益的影响

LoTempio, Jonathan E Jr; Donohue, Christopher R; Moreno, Jonathan D; Santos Rutschman, Ana; Sarnoff, Joshua; Sinha, Michael S; Stoeger, Thomas; Contreras, Jorge L

Overcoming challenges associated with broad sharing of human genomic data

克服与广泛共享人类基因组数据相关的挑战

LoTempio, Jonathan E Jr; Moreno, Jonathan D

Ethics choices during the Human Genome Project reflected their policy world, not ours

人类基因组计划期间的伦理选择反映的是他们当时的政策环境,而不是我们的。

LoTempio, Jonathan E Jr; Donohue, Christopher R; Moreno, Jonathan D; Cook-Deegan, Robert

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 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; Mew, Nicholas Ah; 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

Using a chat-based informed consent tool in large-scale genomic research

在大规模基因组研究中使用基于聊天的知情同意工具

Savage, Sarah K; LoTempio, Jonathan; Smith, Erica D; Andrew, E Hallie; Mas, Gloria; Kahn-Kirby, Amanda H; Délot, Emmanuèle; Cohen, Andrea J; Pitsava, Georgia; Nussbaum, Robert; Fusaro, Vincent A; Berger, Seth; Vilain, Eric