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

Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study

遗传性视网膜疾病中外层视网膜管状结构的横断面分析:一项多中心研究

Liu, Pei-Kang; Lee, Winston; Su, Pei-Yin; Kim, Angela H; Kang, Eugene Yu-Chuan; Levi, Sarah R; Jenny, Laura A; Lin, Pei-Hsuan; Chi, Yi-Chun; Wu, Pei-Liang; Wang, Ethan Hung-Hsi; Chang, Yo-Chen; Liu, Laura; Chen, Kuan-Jen; Hwang, Yih-Shiou; Wu, Wei-Chi; Lai, Chi-Chun; Tsang, Stephen H; Allikmets, Rando; Wang, Nan-Kai

Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease

早期ABCA4疾病黄斑亚临床病灶周围区域的特征分析

Zee, Aiden; Lee, Winston; Su, Pei-Yin; Zernant, Jana; Tsang, Stephen H; Allikmets, Rando

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

通过对105个疾病相关基因进行测序,揭示不完全外显率在黄斑病变中的作用

Hitti-Malin, Rebekkah J; Panneman, Daan M; Corradi, Zelia; Boonen, Erica G M; Astuti, Galuh; Dhaenens, Claire-Marie; Stöhr, Heidi; Weber, Bernhard H F; Sharon, Dror; Banin, Eyal; Karali, Marianthi; Banfi, Sandro; Ben-Yosef, Tamar; Glavač, Damjan; Farrar, G Jane; Ayuso, Carmen; Liskova, Petra; Dudakova, Lubica; Vajter, Marie; Ołdak, Monika; Szaflik, Jacek P; Matynia, Anna; Gorin, Michael B; Kämpjärvi, Kati; Bauwens, Miriam; De Baere, Elfride; Hoyng, Carel B; Li, Catherina H Z; Klaver, Caroline C W; Inglehearn, Chris F; Fujinami, Kaoru; Rivolta, Carlo; Allikmets, Rando; Zernant, Jana; Lee, Winston; Podhajcer, Osvaldo L; Fakin, Ana; Sajovic, Jana; AlTalbishi, Alaa; Valeina, Sandra; Taurina, Gita; Vincent, Andrea L; Roberts, Lisa; Ramesar, Raj; Sartor, Giovanna; Luppi, Elena; Downes, Susan M; van den Born, L Ingeborgh; McLaren, Terri L; De Roach, John N; Lamey, Tina M; Thompson, Jennifer A; Chen, Fred K; Tracewska, Anna M; Kamakari, Smaragda; Sallum, Juliana Maria Ferraz; Bolz, Hanno J; Kayserili, Hülya; Roosing, Susanne; Cremers, Frans P M

Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease

早期ABCA4疾病黄斑亚临床病灶周围区域的特征分析

Zee, Aiden; Lee, Winston; Su, Pei-Yin; Zernant, Jana; Tsang, Stephen H; Allikmets, Rando

iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function

黄斑血管扩张症患者的 iPSC 衍生视网膜色素上皮细胞显示线粒体功能下降

Kevin T Eade, Brendan Robert E Ansell, Sarah Giles, Regis Fallon, Sarah Harkins-Perry, Takayuki Nagasaki, Simone Tzaridis, Martina Wallace, Elizabeth A Mills, Samaneh Farashi, Alec Johnson, Lydia Sauer, Barbara Hart, M Elena Diaz-Rubio, Melanie Bahlo, Christian Metallo, Rando Allikmets, Marin L Gant

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

靶向测序和体外剪接分析揭示了ABCA4相关视网膜病变缺乏遗传性的原因。

Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah; Mishra, Ketan; Whelan, Laura; Cornelis, Stéphanie S; Hoyng, Carel B; Kämpjärvi, Kati; Klaver, Caroline C W; Liskova, Petra; Stöhr, Heidi; Weber, Bernhard H F; Banfi, Sandro; Farrar, G Jane; Sharon, Dror; Zernant, Jana; Allikmets, Rando; Dhaenens, Claire-Marie; Cremers, Frans P M

Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence

监测 Stargardt 病病灶区域进展:眼底光学相干断层扫描与眼底自发荧光成像的比较

Greenstein, Vivienne C; Castillejos, David S; Tsang, Stephen H; Lee, Winston; Sparrow, Janet R; Allikmets, Rando; Birch, David G; Hood, Donald C

A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes

基于长期预后结果的ABCA4疾病基因型-表型相关矩阵

Lee, Winston; Zernant, Jana; Su, Pei-Yin; Nagasaki, Takayuki; Tsang, Stephen H; Allikmets, Rando

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

BEST1基因中一种致病性的框内缺失-插入变异可模拟斯塔加特病表型。

Kolesnikova, Masha; Oh, Jin Kyun; Wang, Jiali; Lee, Winston; Zernant, Jana; Su, Pei-Yin; Kim, Angela H; Jenny, Laura A; Yang, Tingting; Allikmets, Rando; Tsang, Stephen H

Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease

ABCA4 疾病中黄斑中心凹卵黄状病变消退的纵向分析

Lee, Winston; Su, Pei-Yin; Zernant, Jana; Nagasaki, Takayuki; Tsang, Stephen H; Allikmets, Rando