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

Understanding speech and language in KIF1A-associated neurological disorder

理解KIF1A相关神经系统疾病中的言语和语言

Morison, Lottie D; Vogel, Adam P; Christodoulou, John; Gold, Wendy A; Verden, Dylan; Chung, Wendy K; Braden, Ruth; Bredebusch, Joanna; Kaur, Simranpreet; Scheffer, Ingrid E; Morgan, Angela T

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

CHD8 变异与雷特综合征:表型重叠、分子趋同和遗传谱的扩展

Zhang Elaine, Zhao Teresa, Sikora Tim, Ellaway Carolyn, Gold Wendy A, Van Bergen Nicole J, Stroud David A, Christodoulou John, Kaur Simranpreet

Blood-Based Transcriptomic Biomarkers Are Predictive of Neurodegeneration Rather Than Alzheimer's Disease

血液转录组学生物标志物可预测神经退行性疾病而非阿尔茨海默病

Shvetcov, Artur; Thomson, Shannon; Spathos, Jessica; Cho, Ann-Na; Wilkins, Heather M; Andrews, Shea J; Delerue, Fabien; Couttas, Timothy A; Issar, Jasmeen Kaur; Isik, Finula; Kaur, Simranpreet; Drummond, Eleanor; Dobson-Stone, Carol; Duffy, Shantel L; Rogers, Natasha M; Catchpoole, Daniel; Gold, Wendy A; Swerdlow, Russell H; Brown, David A; Finney, Caitlin A

Artificial intelligence-driven meta-analysis of brain gene expression identifies novel gene candidates and a role for mitochondria in Alzheimer's disease

人工智能驱动的脑基因表达荟萃分析发现了新的候选基因以及线粒体在阿尔茨海默病中的作用

Finney, Caitlin A; Delerue, Fabien; Gold, Wendy A; Brown, David A; Shvetcov, Artur

Common targetable inflammatory pathways in brain transcriptome of autism spectrum disorders and Tourette syndrome

自闭症谱系障碍和图雷特综合征脑转录组中常见的可靶向炎症通路

Alshammery, Sarah; Patel, Shrujna; Jones, Hannah F; Han, Velda X; Gloss, Brian S; Gold, Wendy A; Dale, Russell C

WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome

WGCNA 鉴定出雷特综合征中的翻译和蛋白酶体-泛素功能障碍

Haase, Florencia; Gloss, Brian S; Tam, Patrick P L; Gold, Wendy A

Breaking Boundaries in the Brain-Advances in Editing Tools for Neurogenetic Disorders

突破大脑边界——神经遗传疾病编辑工具的最新进展

Coorey, Bronte A; Gold, Wendy A

Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models

利用人类干细胞疾病模型对雷特综合征进行临床前研究

Haase, Florencia D; Coorey, Bronte; Riley, Lisa; Cantrill, Laurence C; Tam, Patrick P L; Gold, Wendy A

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

全外显子组测序鉴定出PNPT1基因中的新变异,这些变异导致氧化磷酸化缺陷和严重的全身性疾病。

Alodaib, Ahmad; Sobreira, Nara; Gold, Wendy A; Riley, Lisa G; Van Bergen, Nicole J; Wilson, Meredith J; Bennetts, Bruce; Thorburn, David R; Boehm, Corinne; Christodoulou, John