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

Role of adipocyte angiotensinogen or angiotensin type 1a receptors in the development of diet-induced atherosclerosis or angiotensin II-induced abdominal aortic aneurysms

脂肪细胞血管紧张素原或血管紧张素1a型受体在饮食诱导的动脉粥样硬化或血管紧张素II诱导的腹主动脉瘤发展中的作用

AlSiraj, Yasir; Putnam, Kelly; Brunner, Seth I; English, Victoria L; Ensor, Charles M; Cassis, Lisa A

Genetic Variants Associated with Persistent Pulmonary Hypertension of Newborn: A Systematic Review

新生儿持续性肺动脉高压相关遗传变异:系统性综述

Mani, Srinivasan; Berger, Seth I

Colorectal Tumors in Diverse Patient Populations Feature a Spectrum of Somatic Mutational Profiles

不同患者群体中的结直肠肿瘤具有一系列体细胞突变谱。

Matejcic, Marco; Teer, Jamie K; Hoehn, Hannah J; Diaz, Diana B; Shankar, Kritika; Gong, Jun; Nguyen, Nathalie T; Loroña, Nicole C; Coppola, Domenico; Fulmer, Clifton G; Saglam, Ozlen; Jiang, Kun; Cress, W Douglas; Muñoz-Antonia, Teresita; Flores, Idhaliz; Gordián, Edna R; Oliveras Torres, José A; Felder, Seth I; Sanchez, Julian; Fleming, Jason B; Siegel, Erin M; Freedman, Jennifer A; Dutil, Julie; Stern, Mariana C; Fridley, Brooke L; Figueiredo, Jane C; Schmit, Stephanie L

Practice Patterns and Survival Outcomes of Immunotherapy for Metastatic Colorectal Cancer

转移性结直肠癌免疫疗法的实践模式和生存结果

Bari, Shahla; Matejcic, Marco; Kim, Richard D; Xie, Hao; Sahin, Ibrahim H; Powers, Benjamin D; Teer, Jamie K; Chan, Timothy A; Felder, Seth I; Schmit, Stephanie L

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

推进长读长纳米孔基因组组装和精确变异检测,以用于罕见病检测

Shloka Negi ,Sarah L Stenton ,Seth I Berger ,Paolo Canigiula ,Brandy McNulty ,Ivo Violich ,Joshua Gardner ,Todd Hillaker ,Sara M O'Rourke ,Melanie C O'Leary ,Elizabeth Carbonell ,Christina Austin-Tse ,Gabrielle Lemire ,Jillian Serrano ,Brian Mangilog ,Grace VanNoy ,Mikhail Kolmogorov ,Eric Vilain ,Anne O'Donnell-Luria ,Emmanuèle Délot ,Karen H Miga ,Jean Monlong ,Benedict Paten

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

Building research infrastructure to advance precision medicine in colorectal cancer

构建研究基础设施以推进结直肠癌精准医疗

Schmit, Stephanie L; Loroña, Nicole C; Sobieski, Daniel; Matejcic, Marco; Nguyen, Nathalie T; Hoehn, Hannah J; Diaz, Diana B; Shankar, Kritika; Cockman, Eric M; Jean-Baptiste, Esther; Tsai, Ya-Yu; Buchalter, R Blake; Brito, Karina; Wilson, Rusche; Coppola, Domenico; Fulmer, Clifton; Saglam, Ozlen; Tassielli, Alexandra F; Beato, Francisca; Dai, Ruifan; Freedman, Jennifer A; Purrington, Kristen; Hu, Bo; Mcgrail, Daniel; Gibson, Heather; Jiang, Kun; Muñoz-Antonia, Teresita; Flores, Idhaliz; Gordian, Edna; Oliveras Torres, José A; Cheng, Iona; Van Blarigan, Erin L; Felder, Seth I; Sanchez, Julian A; Fleming, Jason B; Siegel, Erin M; Cress, Douglas; Thompson, Patricia; Stern, Mariana C; Teer, Jamie K; Figueiredo, Jane C

Survival implications of the age-associated tumor and normal adjacent tissue microbiome among colorectal cancer patients

年龄相关肿瘤及正常邻近组织微生物组对结直肠癌患者生存的影响

Morales, Maria F Gomez; Hogue, Stephanie R; Pitcher, Scott; Jeong, Daniel; Radosavljevic, Ivana; Stefanou, Amalia; Felder, Seth I; Burns, Jessica R; Dowd, Scot E; Vogtmann, Emily; Sinha, Rashmi; Wang, Liang; Wang, Xuefeng; Permuth, Jennifer B; Sears, Cynthia L; Andersen, Shaneda Warren; Greathouse, K Leigh; Kresovich, Jacob K; Friedman, Mark S; Siegel, Erin M; Byrd, Doratha A