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

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden

UBA1 突变负荷广泛范围内 VEXAS 综合征的临床表现

Anderson, Meghan; Ercelen, Defne; Richardson, Ashley; Kim, Jung; Torene, Rebecca I; Sirenko, Maria; Haley, Jeremy S; Cook, Adam; Hill, Wesley; Dove, James; Retterer, Kyle; Carroll, Eitan; Carey, David J; Asgari, Samira; Stewart, Douglas R; Beck, David B

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Multiscore 是一款由人工智能和真实世界临床数据驱动的基因排序工具,在近 10,000 个外显子组和基因组中显示出对孟德尔遗传病分子诊断的高灵敏度。

Ustach, Vincent D; Guillen Sacoto, Maria J; McGee, Stephen; Gainullin, Vladimir G; Arvai, Kevin; Begtrup, Amber; Facio, Flavia M; Greenberg, Matthew; Guðbjartsson, Hákon; McWalter, Kirsty; Millán, Francisca; Monaghan, Kristin; Retterer, Kyle; Richard, Gabriele; Topaz, Nadav; Torene, Rebecca; Johnson, Britt; Laurent, Timothy

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序扩大新生儿筛查范围,以便及早发现可干预的疾病

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M; Suchy, Sharon F; Begtrup, Amber; Langley, Katherine G; Hernan, Rebecca; Amendola, Laura M; Boyd, Brenna M; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L; Coffey, Alison J; Devaney, Joseph M; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D Aaron; Kavus, Haluk; Leibel, Rudolph L; Lobritto, Steven J; McGee, Stephen; Milner, Joshua D; McWalter, Kirsty; Monaghan, Kristin G; Orange, Jordan S; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J; Silver, Eric S; Strom, Samuel; Torene, Rebecca I; Williams, Olatundun; Ustach, Vincent D; Wynn, Julia; Taft, Ryan J; Kruszka, Paul; Caggana, Michele; Chung, Wendy K

Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants

基于未经筛选的健康系统人群的基因型优先分析及COL4A5变异的表型严重程度

Zellers, McKenzie; Solanki, Kaushal; Kelly, Melissa A; Murphy, Karyn M; Retterer, Kyle; Kirchner, H Lester; Bucaloiu, Ion Dan; Moore, Bryn; Mirshahi, Tooraj; Chang, Alexander R

Analysis of biofilm assembly by large area automated AFM

利用大面积自动化原子力显微镜分析生物膜组装

Millan-Solsona, Ruben; Brown, Spenser R; Zhang, Lance; Madugula, Sita Sirisha; Zhao, HuanHuan; Dumerer, Blythe; Bible, Amber N; Lavrik, Nickolay V; Vasudevan, Rama K; Biswas, Arpan; Morrell-Falvey, Jennifer L; Retterer, Scott; Checa, Martí; Collins, Liam

Photodegradable Hydrogel Matrices for Spatiotemporal Control of Bacteria Transport and Delivery

用于细菌运输和递送时空控制的光降解水凝胶基质

Reed, Jeffrey A; Retterer, Scott T; Hansen, Ryan R

Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing

接受临床外显子组测序的儿童和青少年中与运动性言语表型相关的单基因疾病

Mitchel, Marissa W; Oetjens, Matthew; Berry, Alexander S F; Johns, Alicia; Moreno-De-Luca, Andrés; Torene, Rebecca I; Strande, Natasha T; DiStefano, Marina T; Dyer, Lindsay Havens; Brandt, Tracy; Finucane, Brenda M; Ledbetter, David H; Retterer, Kyle; Martin, Christa L; Myers, Scott M

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG)

GRCh37 到 GRCh38 参考基因组过渡的实验室注意事项:美国医学遗传学和基因组学学会 (ACMG) 实验室质量保证公告

Aggarwal, Vimla S; Guha, Saurav; Lebo, Matthew S; Retterer, Kyle; Scharfe, Curt; Bean, Lora J H

Monitoring the impact of confinement on hyphal penetration and fungal behavior

监测限制条件对菌丝穿透和真菌行为的影响

Guo, Yi-Syuan; Liber, Julian A; Morrell-Falvey, Jennifer L; Bonito, Gregory; Retterer, Scott T

Quantifying biofilm propagation on chemically modified surfaces

量化化学修饰表面上的生物膜繁殖

Halsted, Michelle C; Bible, Amber N; Morrell-Falvey, Jennifer L; Retterer, Scott T