RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features

por Nguyen, Xuan-Thanh-An, Talib, Mays, van Schooneveld, Mary J., Brinks, Joost, ten Brink, Jacoline, Florijn, Ralph J., Wijnholds, Jan, Verdijk, Robert M., Bergen, Arthur A., Boon, Camiel J.F.
Publicado 2020

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation

por Kuper, Willemijn F. E., Talsma, Herman E., van Schooneveld, Mary J., Pott, Jan Willem R., Huijgen, Barbara C. H., de Wit, Gerard C., van Hasselt, Peter M., van Genderen, Maria M.
Publicado 2020

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

por Kohl, Susanne, Llavona, Pablo, Sauer, Alexandra, Reuter, Peggy, Weisschuh, Nicole, Kempf, Melanie, Dehmelt, Florian Alexander, Arrenberg, Aristides B, Sliesoraityte, Ieva, Zrenner, Eberhart, van Schooneveld, Mary J, Rudolph, Günther, Kühlewein, Laura, Wissinger, Bernd
Publicado 2021

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

por Talib, Mays, van Schooneveld, Mary J, van Duuren, Roos J. G., Van Cauwenbergh, Caroline, ten Brink, Jacoline B., De Baere, Elfride, Florijn, Ralph J., Schalij-Delfos, Nicoline E., Leroy, Bart P., Bergen, Arthur A., Boon, Camiel J. F.
Publicado 2019

The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective

por Nguyen, Xuan-Thanh-An, Almushattat, Hind, Strubbe, Ine, Georgiou, Michalis, Li, Catherina H. Z., van Schooneveld, Mary J., Joniau, Inge, De Baere, Elfride, Florijn, Ralph J., Bergen, Arthur A., Hoyng, Carel B., Michaelides, Michel, Leroy, Bart P., Boon, Camiel J. F.
Publicado 2021

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

por Runhart, Esmee H., Dhooge, Patty, Meester‐Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R., van Leeuwen, Redmer, Kroes, Hester Y., Bergen, Arthur A., de Jong‐Hesse, Yvonne, Thiadens, Alberta A., van Schooneveld, Mary J., van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L. Ingeborg, Cremers, Frans P. M., Hoyng, Carel B.
Publicado 2021

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies

por Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij‐Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., van den Born, L. Ingeborgh, Hoyng, Carel B., Meester‐Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.
Publicado 2021

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

por Van de Sompele, Stijn, Small, Kent W., Cicekdal, Munevver Burcu, Soriano, Víctor López, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Van der Snickt, Thijs, Rey, Alfredo Dueñas, Rosseel, Toon, Van Heetvelde, Mattias, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., De Zaeytijd, Julie, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, van den Ende, Jenneke, van Schooneveld, Mary J., Gómez-Skarmeta, José Luis, Tena, Juan J., Martinez-Morales, Juan R., Liskova, Petra, Vleminckx, Kris, De Baere, Elfride
Publicado 2022

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

por Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Corominas Galbany, Jordi, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne
Publicado 2023