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

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

中心体-纤毛界面处的 CEP76 功能障碍会导致一系列纤毛病。

Khan Kamal, Tavares Erika, Bishara Katherine, Ozanturk Aysegul, Qebibo Leila, Frangakis Stephan, Calame Daniel G, Meunier Isabelle, Bocquet Béatrice, Ploski Rafal, Al Khateeb Mohammad Ayman, Marafi Dana, Mansard Luke, Damaj Lena, Lewis Richard A, Ullah Farid, Arbogast Thomas, Ogden Jackson P, Harion Madeleine, Willems Marjolaine, Zaki Maha S, Bartolomaeus Tobias, Roux Anne-Françoise, Lupski James R, Rydzanicz Malgorzata, Jamra Rami Abou, Ramond Francis, Heon Elise, Burglen Lydie, Davis Erica E

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

CFAP410基因变异会导致一系列视网膜和骨骼表型。

Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S; Sylla, Mohamed M; Tsang, Stephen H; Alabek, Michelle; Sahel, Jose; Gorin, Michael B; van Genderen, Maria M; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L; Hull, Sarah; Duncan, Jacque L; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A; Yang, Paul; Pennesi, Mark E

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients

以177例患者(主要为儿童)为主的队列中负性视网膜电图的遗传谱

Zaslavsky, Kirill; Tumber, Anupreet; Millar, Eoghan; Boginskaia, Olga; MacDonald, Heather; Klatt, Regan; Ali, Asim; Heon, Elise; Vincent, Ajoy

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

先天性静止性夜盲症患儿屈光不正特征分析:一项多中心研究

Igelman, Austin D; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Hélène; Aleman, Tomas S; Bedoukian, Emma C; O'Neil, Erin C; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; McLean, Rebecca J; Munier, Francis L; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward

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

Functional Vision in Patients With Biallelic USH2A Variants

携带双等位基因USH2A变异的患者的功能性视力

Heon, Elise; Melia, Michele; Bocchino, Laura E; Samarakoon, Lassana; Duncan, Jacque L; Ayala, Allison R; Audo, Isabelle; Bradley, Chris; Cheetham, Janet K; Dagnelie, Gislin; Durham, Todd A; Hoyng, Carel B; Jain, Nieraj; Jayasundera, Kanishka T; Pennesi, Mark E; Weng, Christina Y

KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3

KCNV2相关性视网膜病变:基因型-表型相关性 - KCNV2研究组报告3

de Guimaraes, Thales A C; Georgiou, Michalis; Robson, Anthony G; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Mahroo, Omar A; Pontikos, Nikolas; Vargas, Maurício E; Thiadens, Alberta A H J; Carvalho, Emanuel R de; Nguyen, Xuan-Than-An; Arno, Gavin; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jiménez-Rolando, Belén; Martin-Merida, Maria Inmaculada; Avila-Fernandez, Almudena; Salas, Ester Carreño; Garcia-Sandoval, Blanca; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M; Banin, Eyal; Pennesi, Mark E; Khan, Arif O; Wissinger, Bernd; Webster, Andrew R; Heon, Elise; Boon, Camiel J F; Zrenner, Eberhard; Michaelides, Michel

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

利用基因编辑治疗由C1QTNF5基因创始变异引起的迟发性视网膜变性

Li, Randa T H; Roman, Alejandro J; Sumaroka, Alexander; Stanton, Chloe M; Swider, Malgorzata; Garafalo, Alexandra V; Heon, Elise; Vincent, Ajoy; Wright, Alan F; Megaw, Roly; Aleman, Tomas S; Browning, Andrew C; Dhillon, Baljean; Cideciyan, Artur V

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations

由双等位基因BEST1突变引起的视网膜变性中的感光细胞功能和结构

Cideciyan, Artur V; Jacobson, Samuel G; Sumaroka, Alexander; Swider, Malgorzata; Krishnan, Arun K; Sheplock, Rebecca; Garafalo, Alexandra V; Guziewicz, Karina E; Aguirre, Gustavo D; Beltran, William A; Matsui, Yoshitsugu; Kondo, Mineo; Heon, Elise