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

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

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease

Stargardt病中萎缩进展与ABCA4变异和发病年龄的关系

Pas, Jeroen A A H; Li, Catherina H Z; Van den Broeck, Filip; Dhooge, Patty P A; De Zaeytijd, Julie; Collin, Rob W J; Leroy, Bart P; Hoyng, Carel B

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

Automated Cone Photoreceptor Detection in Adaptive Optics Flood Illumination Ophthalmoscopy

自适应光学泛光照明眼底镜检查中的自动锥体感光细胞检测

Wooning, Sander; Heutinck, Pam A T; Liman, Kubra; Hennekam, Sem; van Haute, Manon; van den Broeck, Filip; Leroy, Bart; Sampson, Danuta M; Roshandel, Danial; Chen, Fred K; Pelt, Daniel M; van den Born, L Ingeborgh; Verhoeven, Virginie J M; Klaver, Caroline C W; Thiadens, Alberta A H J; Durand, Marine; Chateau, Nicolas; van Walsum, Theo; Andrade De Jesus, Danilo; Sanchez Brea, Luisa

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study

脉络膜和视网膜回旋状萎缩(GACR)的新见解:一项队列研究

Balfoort, Berith M; Van den Broeck, Filip; Boon, Camiel J F; Brouwers, Martijn C G J; Diederen, Roselie M H; Dhillon, Preet; van Hasselt, Peter M; Jaeger, Bregje; Karuntu, Jessica S; Rennings, Alexander J M; van Spronsen, Francjan J; Timmer, Corrie; Wagenmakers, Margreet A E M; De Zaeytijd, Julie; Leroy, Bart P; Schulze, Andreas; van Karnebeek, Clara D; Brands, Marion M

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

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

SAMD7基因突变会导致常染色体隐性遗传性黄斑营养不良,伴或不伴视锥细胞功能障碍。

Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R; Van Den Broeck, Filip; Leroy, Bart P; Rizel, Leah; Moye, Abigail R; Meunier, Audrey; Tran, Hoai Viet; Moulin, Alexandre P; Mahieu, Quinten; Van Heetvelde, Mattias; Arno, Gavin; Rivolta, Carlo; De Baere, Elfride; Ben-Yosef, Tamar

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

常染色体显性遗传WFS1相关视神经病变的特征及其与OPA1相关常染色体显性遗传视神经萎缩的比较

de Muijnck, Cansu; Haer-Wigman, Lonneke; van Everdingen, Judith A M; Lushchyk, Tanya; Heutinck, Pam A T; van Dooren, Marieke F; Kievit, Anneke J A; Verhoeven, Virginie J M; Simon, Marleen E H; Wasmann, Rosemarie A; Notting, Irene C; De Baere, Elfride; Walraedt, Sophie; De Zaeytijd, Julie; Van den Broeck, Filip; Leroy, Bart P; Boon, Camiel J F; van Genderen, Maria M