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

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

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

利用HiFi测序技术对高度相似的旁系同源基因进行全基因组分析

Chen, Xiao; Baker, Daniel; Dolzhenko, Egor; Devaney, Joseph M; Noya, Jessica; Berlyoung, April S; Brandon, Rhonda; Hruska, Kathleen S; Lochovsky, Lucas; Kruszka, Paul; Newman, Scott; Farrow, Emily; Thiffault, Isabelle; Pastinen, Tomi; Kasperaviciute, Dalia; Gilissen, Christian; Vissers, Lisenka; Hoischen, Alexander; Berger, Seth; Vilain, Eric; Délot, Emmanuèle; Eberle, Michael A

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum

遗传性果糖不耐受症模拟粘脂沉积症的生化表型:血清溶酶体酶活性升高继发性原因的文献综述

Ferreira, Carlos R; Devaney, Joseph M; Hofherr, Sean E; Pollard, Laura M; Cusmano-Ozog, Kristina

Glucocorticoid Receptor (NR3C1) Variants Associate with the Muscle Strength and Size Response to Resistance Training

糖皮质激素受体(NR3C1)变异与肌肉力量和体积对阻力训练的反应相关

Ash, Garrett I; Kostek, Matthew A; Lee, Harold; Angelopoulos, Theodore J; Clarkson, Priscilla M; Gordon, Paul M; Moyna, Niall M; Visich, Paul S; Zoeller, Robert F; Price, Thomas B; Devaney, Joseph M; Gordish-Dressman, Heather; Thompson, Paul D; Hoffman, Eric P; Pescatello, Linda S

Obesity-Related Genetic Variants and their Associations with Physical Activity

与肥胖相关的基因变异及其与身体活动的关联

Lee, Harold; Ash, Garrett I; Angelopoulos, Theodore J; Gordon, Paul M; Moyna, Niall M; Visich, Paul S; Zoeller, Robert F; Gordish-Dressman, Heather; Deshpande, Ved; Chen, Ming-Hui; Thompson, Paul D; Hoffman, Eric P; Devaney, Joseph M; Pescatello, Linda S

Circulating and urinary microRNA profile in focal segmental glomerulosclerosis: a pilot study

局灶节段性肾小球硬化症患者循环和尿液中microRNA谱:一项初步研究

Ramezani, Ali; Devaney, Joseph M; Cohen, Scott; Wing, Maria R; Scott, Richard; Knoblach, Susan; Singhal, Rishi; Howard, Lilian; Kopp, Jeffrey B; Raj, Dominic S

The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults

ACTN3 R577X 多态性与健康年轻成人的心血管代谢健康状况相关

Deschamps, Chelsea L; Connors, Kimberly E; Klein, Matthias S; Johnsen, Virginia L; Shearer, Jane; Vogel, Hans J; Devaney, Joseph M; Gordish-Dressman, Heather; Many, Gina M; Barfield, Whitney; Hoffman, Eric P; Kraus, William E; Hittel, Dustin S

DNA methylation profile associated with rapid decline in kidney function: findings from the CRIC study.

DNA甲基化谱与肾功能快速下降相关:CRIC研究的发现

Wing Maria R, Devaney Joseph M, Joffe Marshall M, Xie Dawei, Feldman Harold I, Dominic Elizabeth A, Guzman Nicolas J, Ramezani Ali, Susztak Katalin, Herman James G, Cope Leslie, Harmon Brennan, Kwabi-Addo Bernard, Gordish-Dressman Heather, Go Alan S, He Jiang, Lash James P, Kusek John W, Raj Dominic S

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

β-微管蛋白基因TUBB4A的新生突变会导致脑白质病,表现为髓鞘形成不足,并伴有基底神经节和小脑萎缩。

Simons, Cas; Wolf, Nicole I; McNeil, Nathan; Caldovic, Ljubica; Devaney, Joseph M; Takanohashi, Asako; Crawford, Joanna; Ru, Kelin; Grimmond, Sean M; Miller, David; Tonduti, Davide; Schmidt, Johanna L; Chudnow, Robert S; van Coster, Rudy; Lagae, Lieven; Kisler, Jill; Sperner, Jürgen; van der Knaap, Marjo S; Schiffmann, Raphael; Taft, Ryan J; Vanderver, Adeline

Individual differences in emotion-cognition interactions: emotional valence interacts with serotonin transporter genotype to influence brain systems involved in emotional reactivity and cognitive control

情绪-认知互动中的个体差异:情绪效价与血清素转运蛋白基因型相互作用,影响参与情绪反应和认知控制的大脑系统。

Stollstorff, Melanie; Munakata, Yuko; Jensen, Arielle P C; Guild, Ryan M; Smolker, Harry R; Devaney, Joseph M; Banich, Marie T