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

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

TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes

TRAPP病:由转运蛋白颗粒(TRAPP)复合物基因变异引起的严重多系统疾病

Hall, Riley; Sawant, Vallari; Gu, Jinchao; Sikora, Tim; Rollo, Ben; Velasco, Silvia; Kim, Jinkuk; Segev, Nava; Christodoulou, John; Van Bergen, Nicole J

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

严重的 NAD(P)HX 脱水酶 (NAXD) 神经代谢综合征可能在成年期轻微头部外伤后出现。

Van Bergen, Nicole J; Gunanayagam, Karen; Bournazos, Adam M; Walvekar, Adhish S; Warmoes, Marc O; Semcesen, Liana N; Lunke, Sebastian; Bommireddipalli, Shobhana; Sikora, Tim; Patraskaki, Myrto; Jones, Dean L; Garza, Denisse; Sebire, Dale; Gooley, Samuel; McLean, Catriona A; Naidoo, Parm; Rajasekaran, Mugil; Stroud, David A; Linster, Carole L; Wallis, Mathew; Cooper, Sandra T; Christodoulou, John

Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency

由 NAXD 或 NAXE 缺陷引起的代谢物修复障碍的临床和生化特征

Van Bergen, Nicole J; Walvekar, Adhish S; Patraskaki, Myrto; Sikora, Tim; Linster, Carole L; Christodoulou, John

Tissue-specific expression of Cas9 has no impact on whole-body metabolism in four transgenic mouse lines

在四种转基因小鼠品系中,Cas9的组织特异性表达对全身代谢没有影响。

Bond, Simon T; Zhuang, Aowen; Yang, Christine; Gould, Eleanor A M; Sikora, Tim; Liu, Yingying; Fu, Ying; Watt, Kevin I; Tan, Yanie; Kiriazis, Helen; Lancaster, Graeme I; Gregorevic, Paul; Henstridge, Darren C; McMullen, Julie R; Meikle, Peter J; Calkin, Anna C; Drew, Brian G