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

A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.

SMAD7 基因变异可作为 LMNA 相关肌营养不良症的修饰因子,表明 SMAD 信号传导可作为治疗靶点

Mohar Nathaniel P, Langland Christopher J, Darr Zachary, Viles Jill, Moore Steven A, Darbro Benjamin W, Wallrath Lori L

An All-in-One Metabarcoding Approach to Mosquito and Arbovirus Xenosurveillance

一种用于蚊子和虫媒病毒异种监测的一体化元条形码方法

Johnson, Brian J; Graham, Melissa C; Panahi, Elina; Vieira, Carla Julia S P; Nath, Nisa Suraj; Mason, Paul; Gleadhill, Jamie; Thomas, Darran; Onn, Michael B; Shivas, Martin A; Shearman, Damien; Darbro, Jonathan M; Devine, Gregor J

UDP-glucose dehydrogenase variants cause dystroglycanopathy.

UDP-葡萄糖脱氢酶变异体可导致肌营养不良蛋白病

Reelfs Anna M, Stephan Carrie M, Czech Theresa M, Cox Mary O, Joseph Soumya, Darbro Benjamin W, Moore Steven A, Campbell Kevin P, Mathews Katherine D

Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome

KRT32 杂合变异是常染色体显性遗传性松散生长期毛发综合征的致病原因。

Melo, Marcelo; Phillippi, Elizabeth; Moninger, Thomas; Stille, Lisa J; Foxx, Kya; Darbro, Benjamin; Messingham, Kelly N; Sander, Edward A; El-Shanti, Hatem

Homeostatic Influence of Fig4 Outside of the Fab1-Vac14-Fig4 Complex in Saccharomyces cerevisiae

Fig4 在酿酒酵母中 Fab1-Vac14-Fig4 复合物之外的稳态影响

Reeves, Hannah E; King, Anna; Khan, Imran; Thomas, Asha; Chung, Corey; Sivaprakash, Anirudan; Hall, Harrison A; McGuire, Cole; Cruz, Victoria; Habib, Alim; Dotson, Lauren; Lee, Sophia R; Darbro, Caroline L; Strunk, Bethany S

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance

家族性眼耳脊椎谱系疾病:常染色体显性遗传的基因组学研究

Petrin, Aline L; Machado-Paula, Ligiane Alves; Hinkle, Austin; Hovey, Luke; Awotoye, Waheed; Chimenti, Michael; Darbro, Benjamin; Ribeiro-Bicudo, Lucilene A; Dabdoub, Shareef M; Peter, Tabitha; Breheny, Patrick; Murray, Jeffrey C; Van Otterloo, Eric; Rengasamy Venugopalan, Shankar; Moreno-Uribe, Lina M

Finding buried genetic test results in the electronic health record is inefficient and variable across institutions

在电子健康记录中查找隐藏的基因检测结果效率低下,而且不同机构之间的差异也很大。

Veatch, Olivia J; Mathew, Jomol; Rockowitz, Shira; Baldridge, Dustin; Wetzel, Alyssa; Niarchou, Maria; Clarke, Megan; Shankar, Prabhu; Shankar, Suma; Cohen, Julie S; German, Kendell; Berger, Seth; Sellitto, Angela; Oh, Inez Y; Raizada, Rashi; Sliz, Piotr; Soby, Selvin; Kaplarevic, Mihailo; Doherty, Dan; Gropman, Andrea; Smith-Hicks, Constance; Neul, Jeffrey L; Lanzotti, Virginia; Darbro, Benjamin; Chang, Qiang; Sahin, Mustafa; Chopra, Maya

Functional Copy-Number Alterations as Diagnostic and Prognostic Biomarkers in Neuroendocrine Tumors

功能性拷贝数变异作为神经内分泌肿瘤的诊断和预后生物标志物

Vaughn, Hayley; Major, Heather; Kadera, Evangeline; Keck, Kendall; Dunham, Timothy; Qian, Qining; Brown, Bartley; Scott, Aaron; Bellizzi, Andrew M; Braun, Terry; Breheny, Patrick; Quelle, Dawn E; Howe, James R; Darbro, Benjamin

Long-term co-circulation of multiple arboviruses in southeast Australia revealed by xeno-monitoring and viral whole-genome sequencing

通过异种监测和病毒全基因组测序揭示了澳大利亚东南部多种虫媒病毒的长期共同传播。

Vieira, Carla Julia S P; Onn, Michael B; Shivas, Martin A; Shearman, Damien; Darbro, Jonathan M; Graham, Melissa; Freitas, Lucas; van den Hurk, Andrew F; Frentiu, Francesca D; Wallau, Gabriel L; Devine, Gregor J

Mosquito bloodmeals can be used to determine vertebrate diversity, host preference, and pathogen exposure in humans and wildlife

蚊子血粉可用于确定脊椎动物的多样性、宿主的偏好以及人类和野生动物的病原体暴露情况

Carla Julia S P Vieira, Narayan Gyawali, Michael B Onn, Martin A Shivas, Damien Shearman, Jonathan M Darbro, Gabriel L Wallau, Andrew F van den Hurk, Francesca D Frentiu, Eloise B Skinner, Gregor J Devine