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

Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene

用于了解RPE65基因中意义不明变异致病性的高通量检测方法

Azizzadeh Pormehr, Leila; Manian, Kannan Vrindavan; Cho, Ha Eun; Redmond, T Michael; Comander, Jason

A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction.

视紫红质错义转运变异及其对药物纠正的反应的综合图谱

Manian Kannan V, Ludwig Connor H, Zhao Yan, Abell Nathan, Yang Xiaoping, Root David E, Albert Matthew L, Comander Jason

Gene Editing for CEP290-Associated Retinal Degeneration

基因编辑治疗CEP290相关视网膜变性

Pierce, Eric A; Aleman, Tomas S; Jayasundera, Kanishka T; Ashimatey, Bright S; Kim, Keunpyo; Rashid, Alia; Jaskolka, Michael C; Myers, Rene L; Lam, Byron L; Bailey, Steven T; Comander, Jason I; Lauer, Andreas K; Maguire, Albert M; Pennesi, Mark E

Classification and Growth Rate of Chorioretinal Atrophy after Voretigene Neparvovec-Rzyl for RPE65-Mediated Retinal Degeneration

Voretigene Neparvovec-Rzyl治疗RPE65介导的视网膜变性后脉络膜视网膜萎缩的分类和生长速率

Bommakanti, Nikhil; Young, Benjamin K; Sisk, Robert A; Berrocal, Audina M; Duncan, Jacque L; Bakall, Benjamin; Mathias, Marc T; Ahmed, Ishrat; Chorfi, Sarah; Comander, Jason; Nagiel, Aaron; Besirli, Cagri G

Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

基于结构的网络分析预测与遗传性视网膜疾病相关的人类蛋白质致病变异

Hauser, Blake M; Luo, Yuyang; Nathan, Anusha; Al-Moujahed, Ahmad; Vavvas, Demetrios G; Comander, Jason; Pierce, Eric A; Place, Emily M; Bujakowska, Kinga M; Gaiha, Gaurav D; Rossin, Elizabeth J

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

罕见病专家对新生儿基因组测序的看法

Gold, Nina B; Adelson, Sophia M; Shah, Nidhi; Williams, Shardae; Bick, Sarah L; Zoltick, Emilie S; Gold, Jessica I; Strong, Alanna; Ganetzky, Rebecca; Roberts, Amy E; Walker, Melissa; Holtz, Alexander M; Sankaran, Vijay G; Delmonte, Ottavia; Tan, Weizhen; Holm, Ingrid A; Thiagarajah, Jay R; Kamihara, Junne; Comander, Jason; Place, Emily; Wiggs, Janey; Green, Robert C

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

基于基因型、维生素A/E补充剂和视网膜电图生物标志物的视网膜色素变性自然史

Comander, Jason; Weigel DiFranco, Carol; Sanderson, Kit; Place, Emily; Maher, Matthew; Zampaglione, Erin; Zhao, Yan; Huckfeldt, Rachel M; Bujakowska, Kinga M; Pierce, Eric

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

导致晚发性非综合征性视网膜营养不良伴黄斑脉络膜视网膜萎缩的新型RCBTB1变异

Catomeris, Andrew J; Ballios, Brian G; Sangermano, Riccardo; Wagner, Naomi E; Comander, Jason I; Pierce, Eric A; Place, Emily M; Bujakowska, Kinga M; Huckfeldt, Rachel M

Moving Towards PDE6A Gene Supplementation Therapy

迈向PDE6A基因补充疗法

Bujakowska, Kinga M; Comander, Jason

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

拷贝数变异在遗传性视网膜变性中占致病性的9%。

Zampaglione, Erin; Kinde, Benyam; Place, Emily M; Navarro-Gomez, Daniel; Maher, Matthew; Jamshidi, Farzad; Nassiri, Sherwin; Mazzone, J Alex; Finn, Caitlin; Schlegel, Dana; Comander, Jason; Pierce, Eric A; Bujakowska, Kinga M