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

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

缺乏 Lyst 的小鼠模型重现了 Chediak-Higashi 综合征,并表现出更早发病的神经退行性表型

Greene Sunny, Talbert Mackenzie L, Frost F Graeme, Zerfas Patricia M, Springer Danielle, Noguchi Audrey, Morimoto Marie, Maynard Dawn, Garrett Lisa, Elliot Gene, Traver Maria, Yarnell David, Leoyklang Petcharat, Burke John D, Nicoli Elena-Raluca, Gahl William A, Introne Wendy J, Malicdan May Christine V

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

RNA测序驱动的诊断扩大了NBAS缺乏症的表型谱

Silverstein Sarah, Cassini Thomas, Fu Jiayu, Pusey Barbara, Macnamara Ellen, Frost F Graeme, Williams Charlotte, Huang Yan, Tifft Cynthia J, Gahl William, Malicdan May-Christine, Adams David R

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

内质网蛋白Tmem208的缺失会影响细胞极性、发育和存活率。

Dutta, Debdeep; Kanca, Oguz; Shridharan, Rishi V; Marcogliese, Paul C; Steger, Benjamin; Morimoto, Marie; Frost, F Graeme; Macnamara, Ellen; Wangler, Michael F; Yamamoto, Shinya; Jenny, Andreas; Adams, David; Malicdan, May C; Bellen, Hugo J

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

患有骨发育不良、鱼鳞病和畸形特征的患者携带双等位基因生殖系 DDX41 变异

Sharma Prashant, McFadden Jason R, Frost F Graeme, Markello Thomas C, Grange Dorothy K, Introne Wendy J, Gahl William A, Malicdan May Christine V

Pan-cancer RNA-seq data stratifies tumours by some hallmarks of cancer

泛癌RNA测序数据根据癌症的一些标志性特征对肿瘤进行分层。

Frost, F Graeme; Cherukuri, Praveen F; Milanovich, Samuel; Boerkoel, Cornelius F