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

The regulatory landscape for extracellular vesicle therapies: Australian context and future directions

细胞外囊泡疗法的监管格局:澳大利亚的现状与未来方向

Rudge, Christopher; McClelland, Reeve; Chrzanowski, Wojciech; Davis, Ryan L

Data-driven insights to inform splice-altering variant assessment

数据驱动的洞见可用于指导剪接改变变异体的评估

Sullivan, Patricia J; Quinn, Julian M W; Ajuyah, Pamela; Pinese, Mark; Davis, Ryan L; Cowley, Mark J

Genetic Testing of Movements Disorders: A Review of Clinical Utility

运动障碍的基因检测:临床应用综述

Yeow, Dennis; Rudaks, Laura I; Siow, Sue-Faye; Davis, Ryan L; Kumar, Kishore R

NEMoE: a nutrition aware regularized mixture of experts model to identify heterogeneous diet-microbiome-host health interactions

NEMoE:一种营养感知型正则化专家混合模型,用于识别异质性饮食-微生物组-宿主健康相互作用。

Xu, Xiangnan; Lubomski, Michal; Holmes, Andrew J; Sue, Carolyn M; Davis, Ryan L; Muller, Samuel; Yang, Jean Y H

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Introme能够准确预测编码和非编码变异对基因剪接的影响,并具有临床应用价值。

Sullivan, Patricia J; Gayevskiy, Velimir; Davis, Ryan L; Wong, Marie; Mayoh, Chelsea; Mallawaarachchi, Amali; Hort, Yvonne; McCabe, Mark J; Beecroft, Sarah; Jackson, Matilda R; Arts, Peer; Dubowsky, Andrew; Laing, Nigel; Dinger, Marcel E; Scott, Hamish S; Oates, Emily; Pinese, Mark; Cowley, Mark J

Low disease risk and penetrance in Leber hereditary optic neuropathy

莱伯遗传性视神经病变的患病风险和外显率较低

Watson, Eloise C; Davis, Ryan L; Ravishankar, Shyamsundar; Copty, Joseph; Kummerfeld, Sarah; Sue, Carolyn M

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

利用全基因组测序进行线粒体疾病诊断

Davis, Ryan L; Kumar, Kishore R; Puttick, Clare; Liang, Christina; Ahmad, Kate E; Edema-Hildebrand, Fabienne; Park, Jin-Sung; Minoche, Andre E; Gayevskiy, Velimir; Mallawaarachchi, Amali C; Christodoulou, John; Schofield, Deborah; Dinger, Marcel E; Cowley, Mark J; Sue, Carolyn M

The Gut Microbiome in Parkinson's Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies

帕金森病中的肠道微生物群:一项关于其对疾病进展和器械辅助治疗影响的纵向研究

Lubomski, Michal; Xu, Xiangnan; Holmes, Andrew J; Muller, Samuel; Yang, Jean Y H; Davis, Ryan L; Sue, Carolyn M

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants

一例伴有复合杂合YARS2致病变异的线粒体肌病、乳酸性酸中毒和铁粒幼细胞性贫血2型患者,在妊娠期间出现心肺功能失代偿和贫血。

Rudaks, Laura I; Watson, Eloise; Oboudiyat, Carly; Kumar, Kishore R; Sullivan, Patricia; Cowley, Mark J; Davis, Ryan L; Sue, Carolyn M

Health-Related Quality of Life for Parkinson's Disease Patients and Their Caregivers

帕金森病患者及其照护者的健康相关生活质量

Lubomski, Michal; Davis, Ryan L; Sue, Carolyn M