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

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings

ABCA4 与 PRPH2 相关性视网膜病变:临床和电生理学发现

Heath Jeffery, Rachael C; Thompson, Jennifer A; Lo, Johnny; Vincent, Andrea L; Patil, Minal; Bianco, Lorenzo; Battaglia Parodi, Maurizio; Ziccardi, Lucia; Dell'Aquila, Carmen; Barbano, Lucilla; Tang, Wei Chao; Chan, Choi Mun; Boon, Camiel J F; Hensman, Jonathan; Chen, Ta-Ching; Lin, Chien-Yu; Chen, Pei-Lung; Vincent, Ajoy; Tumber, Anupreet; Heon, Elise; Grigg, John R; Jamieson, Robyn V; Cornish, Elisa E; Nash, Benjamin M; Chou, Jeremy; Lamey, Tina M; McLenachan, Samuel; Roshandel, Danial; Fujinami, Kaoru; Chelva, Enid; McLaren, Terri L; Chen, Fred K

Connecting cilium, stress response, and proteostasis abnormalities inform variant and therapy assessment in RPGRIP1 retinal organoids

连接纤毛、应激反应和蛋白质稳态异常有助于评估RPGRIP1视网膜类器官中的变异和治疗效果

Loi, To Ha; Cheng, Anson; Kim, Hani Jieun; Fernando, Milan; Nash, Benjamin M; Aryamanesh, Nader; Grigg, John R; Yang, Pengyi; Gonzalez-Cordero, Anai; Jamieson, Robyn V

Trans-synaptic Interaction with mGluR6 Contributes to ELFN1 Presynaptic Enrichment in Rod Photoreceptors

与 mGluR6 的跨突触相互作用促进视杆光感受器中 ELFN1 的突触前富集

Lee, Jaeeun; McGowan, Robyn V; Agosto, Melina A

Understanding the phenotype of genetically associated electronegative ERG retinopathies: comparing the full-field ERG b:a ratio

了解与基因相关的负性视网膜电图病变的表型:比较全视野视网膜电图b:a比值

Ovens, Christopher A; Cornish, Elisa E; Ali, Haipha; Leung, Vannessa; Sakti, Dhimas H; Saakova, Nonna; Raza, Marium; Nash, Benjamin M; Fraser, Clare L; McCluskey, Peter; Jamieson, Robyn V; Grigg, John R

Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnership

澳大利亚遗传性视网膜疾病研究重点:詹姆斯·林德联盟优先事项设定伙伴关系

Robertson, Eden G; Hetherington, Kate; Prain, Meredith; Ma, Alan; Ayton, Lauren N; Jamieson, Robyn V; Shepard, Emily; Boyd, Leighton; Hall, Julia; Boyd, Rosemary; Karandrews, Sally; Feller, Hollie; Simunovic, Matthew P; Grigg, John R; Yamamoto, Kanae; Wakefield, Claire E; Gonzalez-Cordero, Anai

A Practical Guide to Genetic Eye Conditions for Paediatricians

儿科医生遗传性眼病实用指南

Lin, Richard; Ma, Alan; Nash, Benjamin M; McPherson, Zachary; Grigg, John R; Jamieson, Robyn V

Hardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures

Hardy-Rand-Rittler 色觉测试在视锥细胞和视锥-视杆细胞营养不良中的应用:与结构和功能性结果指标的相关性

Tharmarajah, Brindhan; Cornish, Elisa E; Nguyen, Jonathan; Barnes, Elizabeth; Leahy, Kate E; Vaze, Anagha; Jamieson, Robyn V; Grigg, John R

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

与外周蛋白-2相关的视网膜营养不良:241例患者的遗传谱和新的临床观察

Heath Jeffery, Rachael C; Thompson, Jennifer A; Lo, Johnny; Chelva, Enid S; Armstrong, Sean; Pulido, Jose S; Procopio, Rebecca; Vincent, Andrea L; Bianco, Lorenzo; Battaglia Parodi, Maurizio; Ziccardi, Lucia; Antonelli, Giulio; Barbano, Lucilla; Marques, João P; Geada, Sara; Carvalho, Ana L; Tang, Wei C; Chan, Choi M; Boon, Camiel J F; Hensman, Jonathan; Chen, Ta-Ching; Lin, Chien-Yu; Chen, Pei-Lung; Vincent, Ajoy; Tumber, Anupreet; Heon, Elise; Grigg, John R; Jamieson, Robyn V; Cornish, Elisa E; Nash, Benjamin M; Borooah, Shyamanga; Ayton, Lauren N; Britten-Jones, Alexis Ceecee; Edwards, Thomas L; Ruddle, Jonathan B; Sharma, Abhishek; Porter, Rowan G; Lamey, Tina M; McLaren, Terri L; McLenachan, Samuel; Roshandel, Danial; Chen, Fred K

What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability

基因组学多学科团队方法的优势何在?一项关于其实施和可持续性的系统性综述

Ma, Alan; O'Shea, Rosie; Wedd, Laura; Wong, Claire; Jamieson, Robyn V; Rankin, Nicole

Comprehensive characterization of fetal and mature retinal cell identity to assess the fidelity of retinal organoids

全面表征胎儿和成熟视网膜细胞身份,以评估视网膜类器官的保真度

Hani Jieun Kim, Michelle O'Hara-Wright, Daniel Kim, To Ha Loi, Benjamin Y Lim, Robyn V Jamieson, Anai Gonzalez-Cordero, Pengyi Yang