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

ISCEV extended protocol for the photoreceptor directed ERG using full-field silent substitution stimuli

ISCEV扩展方案,用于使用全视野无声替代刺激的光感受器导向ERG

Kremers, Jan; Barboni, Mirella T S; Zele, Andrew J; Feigl, Beatrix; McAnany, J Jason; Robson, Anthony G; Nagy, Balázs Vince; Parry, Neil; Mahroo, Omar A; Huchzermeyer, Cord

Correction: ISCEV extended protocol for the photoreceptor directed ERG using full-field silent substitution stimuli

更正:ISCEV 扩展方案,用于使用全视野无声替代刺激的光感受器导向 ERG

Kremers, Jan; Barboni, Mirella T S; Zele, Andrew J; Feigl, Beatrix; McAnany, J Jason; Robson, Anthony G; Nagy, Balázs Vince; Parry, Neil; Mahroo, Omar A; Huchzermeyer, Cord

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

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

编码囊泡 AP-5 复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良

Kaminska Karolina, Cancellieri Francesca, Quinodoz Mathieu, Moye Abigail R, Bauwens Miriam, Lin Siying, Janeschitz-Kriegl Lucas, Hayman Tamar, Barberán-Martínez Pilar, Schlaeger Regina, Van den Broeck Filip, Ávila Fernández Almudena, Fernández-Caballero Lidia, Perea-Romero Irene, García-García Gema, Salom David, Mazzola Pascale, Zuleger Theresia, Poths Karin, Haack Tobias B, Jacob Julie, Vermeer Sascha, Terbeek Frédérique, Feltgen Nicolas, Moulin Alexandre P, Koutroumanou Louisa, Papadakis George, Browning Andrew C, Madhusudhan Savita, Gränse Lotta, Banin Eyal, Sousa Ana Berta, Coutinho Santos Luisa, Kuehlewein Laura, De Angeli Pietro, Leroy Bart P, Mahroo Omar A, Sedgwick Fay, Eden James, Pfau Maximilian, Andréasson Sten, Scholl Hendrik P N, Ayuso Carmen, Millán José M, Sharon Dror, Tsilimbaris Miltiadis K, Vaclavik Veronika, Tran Hoai V, Ben-Yosef Tamar, De Baere Elfride, Webster Andrew R, Arno Gavin, Sergouniotis Panagiotis I, Kohl Susanne, Santos Cristina, Rivolta Carlo