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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Enhancing diagnostic accuracy in rare and common fundus diseases with a knowledge-rich vision-language model

利用知识丰富的视觉语言模型提高罕见和常见眼底疾病的诊断准确性

Wang, Meng; Lin, Tian; Lin, Aidi; Yu, Kai; Peng, Yuanyuan; Wang, Lianyu; Chen, Cheng; Zou, Ke; Liang, Huiyu; Chen, Man; Yao, Xue; Zhang, Meiqin; Huang, Binwei; Zheng, Chaoxin; Zhang, Peixin; Chen, Wei; Luo, Yilong; Chen, Yifan; Xia, Honghe; Shi, Tingkun; Zhang, Qi; Guo, Jinming; Chen, Xiaolin; Wang, Jingcheng; Tham, Yih Chung; Liu, Dianbo; Wong, Wendy; Thakur, Sahil; Fenner, Beau J; Fang, Danqi; Liu, Siying; Liu, Qingyun; Huang, Yuqiang; Zeng, Hongqiang; Meng, Yanda; Zhou, Yukun; Jiang, Zehua; Qiu, Minghui; Zhang, Changqing; Chen, Xinjian; Wang, Sophia Y; Lee, Cecilia S; Sobrin, Lucia; Cheung, Carol Y; Pang, Chi Pui; Keane, Pearse A; Cheng, Ching-Yu; Chen, Haoyu; Fu, Huazhu

Artificial intelligence-quantified schisis volume as a structural endpoint for gene therapy clinical trials in X-linked retinoschisis

利用人工智能量化视网膜劈裂体积作为X连锁视网膜劈裂症基因治疗临床试验的结构终点

Tan, Tien-En; Dai, Peilun; Hensman, Jonathan; Kiraly, Peter; Fenner, Beau J; Liu, Yong; Goh, Rick S M; Han, Ian C; Ting, Daniel S W; Boon, Camiel J F; Fischer, M Dominik

Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa

EYS相关性视网膜色素变性的眼底自发荧光特征

Kominami, Taro; Tan, Tien-En; Ushida, Hiroaki; Jain, Kanika; Goto, Kensuke; Bylstra, Yasmin M; Sajiki, Ai Fujita; Mathur, Ranjana S; Ota, Junya; Lim, Weng Khong; Nishiguchi, Koji M; Fenner, Beau J

One down but many more to go: the state of gene therapy for inherited retinal disease

已解决一个问题,但还有更多问题需要解决:遗传性视网膜疾病的基因疗法现状

Tan, Tien-En; Sun, Christopher Z Y; Poh, Stanley S J; Lim, Joshua; Teo, Jasmin X J; Dey, Sonali; Chua, Zachary W X; Guo, Jing; Wang, Zhenxun; Tay, Hwee Goon; Fenner, Beau J

Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population

亚洲人群中EYS相关和USH2A相关视网膜色素变性的表型差异

Yeo, Ellis Y H; Kominami, Taro; Tan, Tien-En; Babu, Lathiksha; Ong, Kevin G S; Tan, Weilun; Bylstra, Yasmin M; Jain, Kanika; Tang, Rachael W C; Farooqui, Saadia Z; Kam, Sylvia P R; Chan, Choi-Mun; Mathur, Ranjana S; Jamuar, Saumya S; Lim, Weng Khong; Nishiguchi, Koji; Fenner, Beau J

Early-onset macular drusen, a monogenic form of age-related macular degeneration

早发性黄斑玻璃疣,一种单基因遗传的年龄相关性黄斑变性

George, Lisa M; Ranjana, Mathur; Quinodoz, Mathieu; Tang, Rachael W C; Lim, Weng Khong; Gilhar, Noa G; Farooqui, Saadia Z; Rivolta, Carlo; Fenner, Beau J

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease

一项对460例ABCA4相关视网膜疾病患者的回顾性纵向研究

Fenner, Beau J; Whitmore, S Scott; DeLuca, Adam P; Andorf, Jean L; Daggett, Heather T; Luse, Meagan A; Haefeli, Lorena M; Riley, Janet B; Critser, Douglas B; Wilkinson, Mark E; Dumitrescu, Alina V; Drack, Arlene V; Boyce, Timothy M; Russell, Jonathan F; Binkley, Elaine M; Sohn, Elliott H; Russell, Stephen R; Boldt, H Culver; Mullins, Robert F; Tucker, Budd A; Scheetz, Todd E; Han, Ian C; Stone, Edwin M

Comparing generative and retrieval-based chatbots in answering patient questions regarding age-related macular degeneration and diabetic retinopathy

比较生成式聊天机器人和检索式聊天机器人在回答患者关于年龄相关性黄斑变性和糖尿病视网膜病变的问题方面的性能

Cheong, Kai Xiong; Zhang, Chenxi; Tan, Tien-En; Fenner, Beau J; Wong, Wendy Meihua; Teo, Kelvin Yc; Wang, Ya Xing; Sivaprasad, Sobha; Keane, Pearse A; Lee, Cecilia Sungmin; Lee, Aaron Y; Cheung, Chui Ming Gemmy; Wong, Tien Yin; Cheong, Yun-Gyung; Song, Su Jeong; Tham, Yih Chung

Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.

利用 iPSC 衍生的视网膜类器官和回顾性临床数据,证明 ABCA4 中常见非外显子突变的致病性

Burnight Erin R, Fenner Beau J, Han Ian C, DeLuca Adam P, Whitmore S Scott, Bohrer Laura R, Andorf Jeaneen L, Sohn Elliott H, Mullins Robert F, Tucker Budd A, Stone Edwin M