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

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome

USH1C相关Usher综合征的临床表现和分子遗传学

Aychoua, Nancy; de Guimarães, Thales A C; Ponnekanti, Manav B; Sasidharan, Sajin; Leung, Sum-Ping; Ibukun, Folahan Adesola; James, Naomi; Berry, Vanita; Mahroo, Omar A; Webster, Andrew R; Kalitzeos, Angelos; Michaelides, Michel

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement

FSD1L基因的双等位基因变异会导致视网膜色素变性,伴或不伴神经系统受累。

Lin, Siying; Cancellieri, Francesca; Cao, Yexuan; Lotery, Andrew J; Moye, Abigail R; Vaclavik, Veronika; Perren, Fabienne; Poplawski, Andrzej B; Schiff, Elena R; Ullah, Mukhtar; Iglesias-Romero, Ana Belen; Kaminska, Karolina; Jestin, Aleksandr; Folcher, Marc; Wallerich, Sandrine; Ribeiro, Mariana M; Hahaut, Vincent; Picelli, Simone; Mustafi, Debarshi; Tworak, Aleksander; Smidak, Roman; Li, Yumei; Lu, Jiaxiong; Wang, Meng; Mahroo, Omar A; Borooah, Shyamanga; Quinodoz, Mathieu; Palczewski, Krzysztof; Webster, Andrew R; Rivolta, Carlo; Chen, Rui; Arno, Gavin

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

SAXO6基因的功能缺失变异会导致迟发性视网膜营养不良,该基因编码光感受器纤毛的微管内层蛋白。

Moye, Abigail R; McCafferty, Caitlyn L; Lin, Siying; Han, Ji Hoon; Dudakova, Lubica; Rodenburg, Kim; Szabó, Viktória; Nagy, Zoltán Zsolt; Zur, Dinah; Vajter, Marie; Kousal, Bohdan; Moulin, Alexandre P; Graff-Meyer, Alexandra; Roosing, Susanne; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R; Ben-Yosef, Tamar; Liskova, Petra; Engel, Benjamin D; Zobor, Ditta; Quinodoz, Mathieu; Rivolta, Carlo

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder

INTS11相关神经发育障碍中一种独特的视网膜表型特征

Lin, Siying; Tan, Wendy D; Robson, Anthony G; Arno, Gavin; Gissen, Paul; Schiff, Elena R; McMillan, Brian; Odom, J Vernon; Mahroo, Omar A; Webster, Andrew R; Leys, Monique

Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy

对一大群患有BBS1视网膜病变的患者进行遗传和表型特征分析

Romo-Aguas, Juan C; de Guimarāes, Thales A C; Kalitzeos, Angelos; Alfaro-Goldaracena, Maria Del Pilar; Baker, Rebecca A; Robson, Anthony G; Fujinami, Kaoru; Fujinami-Yokokawa, Yu; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa

RP9 再探;RP9 p.(H137L) 突变仍然是显性剪接因子视网膜色素变性的可能病因。

Chang, Leon; Poulter, James A; Webster, Andrew R; Arno, Gavin; Mukherjee, Rajarshi; Lotery, Andrew; Hardcastle, Alison J; Watson, Christopher M; Inglehearn, Chris F

Integrating genetics, age and imaging to predict treatment outcomes in neovascular age-related macular degeneration: a proof-of-concept study

整合遗传学、年龄和影像学信息预测新生血管性年龄相关性黄斑变性的治疗结果:一项概念验证研究

Moghul, Ismail; Pontikos, Nikolas; Sharma, Anitta; Liu, Timing; Soomro, Taha; Wagner, Siegfried K; Silva, Alan Sousa; Zhang, Gongyu; Naik, Gunjan; Bagga, Pallavi; Chan, Yiu Wai; Keane, Pearse A; Cipriani, Valentina; Sivaprasad, Sobha; Webster, Andrew R; Balaskas, Konstantinos

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

利用 Eye2Gene 进行多模态成像,实现遗传性视网膜疾病的下一代表型分析

Pontikos, Nikolas; Woof, William A; Lin, Siying; Ghoshal, Biraja; Mendes, Bernardo S; Veturi, Advaith; Nguyen, Quang; Javanmardi, Behnam; Georgiou, Michalis; Hustinx, Alexander; Ibarra-Arellano, Miguel A; Moghul, Ismail; Liu, Yichen; Pfau, Kristina; Pfau, Maximilian; Shah, Mital; Yu, Jing; Al-Khuzaei, Saoud; Wagner, Siegfried K; Daich Varela, Malena; Cabral de Guimarães, Thales Antonio; Sen, Sagnik; Naik, Gunjan; Sumodhee, Dayyanah; Fu, Dun Jack; Kabiri, Nathaniel; Furman, Jennifer; Liefers, Bart; Lee, Aaron Y; De Silva, Samantha R; Marques, Caio; Motta, Fabiana; Fujinami-Yokokawa, Yu; Hardcastle, Alison J; Arno, Gavin; Lorenz, Birgit; Herrmann, Philipp; Fujinami, Kaoru; Sallum, Juliana; Madhusudhan, Savita; Downes, Susan M; Holz, Frank G; Balaskas, Konstantinos; Webster, Andrew R; Mahroo, Omar A; Krawitz, Peter M; Michaelides, Michel