Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

por Kaltak, Melita, Corradi, Zelia, Collin, Rob W J, Swildens, Jim, Cremers, Frans P M
Publicado 2023

Comparative Gene Expression Analysis of Two Mouse Models of Autism: Transcriptome Profiling of the BTBR and En2(−/−) Hippocampus

por Provenzano, Giovanni, Corradi, Zelia, Monsorno, Katia, Fedrizzi, Tarcisio, Ricceri, Laura, Scattoni, Maria L., Bozzi, Yuri
Publicado 2016

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

por Sajovic, Jana, Meglič, Andrej, Corradi, Zelia, Khan, Mubeen, Maver, Aleš, Vidmar, Martina Jarc, Hawlina, Marko, Cremers, Frans P. M., Fakin, Ana
Publicado 2023

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

por Mc Clinton, Benjamin, Corradi, Zelia, McKibbin, Martin, Panneman, Daan M., Roosing, Susanne, Boonen, Erica G. M., Ali, Manir, Watson, Christopher M., Steel, David H., Cremers, Frans P. M., Inglehearn, Chris F., Hitti-Malin, Rebekkah J., Toomes, Carmel
Publicado 2023

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

por Hitti‐Malin, Rebekkah J., Dhaenens, Claire‐Marie, Panneman, Daan M., Corradi, Zelia, Khan, Mubeen, den Hollander, Anneke I., Farrar, G. Jane, Gilissen, Christian, Hoischen, Alexander, van de Vorst, Maartje, Bults, Femke, Boonen, Erica G. M., Saunders, Patrick, Roosing, Susanne, Cremers, Frans P. M.
Publicado 2022

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

por Whelan, Laura, Dockery, Adrian, Stephenson, Kirk A. J., Zhu, Julia, Kopčić, Ella, Post, Iris J. M., Khan, Mubeen, Corradi, Zelia, Wynne, Niamh, O’ Byrne, James J., Duignan, Emma, Silvestri, Giuliana, Roosing, Susanne, Cremers, Frans P. M., Keegan, David J., Kenna, Paul F., Farrar, G. Jane
Publicado 2023

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

por Rodríguez-Hidalgo, María, de Bruijn, Suzanne E., Corradi, Zelia, Rodenburg, Kim, Lara-López, Araceli, Valverde-Megías, Alicia, Ávila-Fernández, Almudena, Fernandez-Caballero, Lidia, Del Pozo-Valero, Marta, Corominas, Jordi, Gilissen, Christian, Irigoyen, Cristina, Cremers, Frans P. M., Ayuso, Carmen, Ruiz-Ederra, Javier, Roosing, Susanne
Publicado 2023

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

por Corradi, Zelia, Salameh, Manar, Khan, Mubeen, Héon, Elise, Mishra, Ketan, Hitti-Malin, Rebekkah J., AlSwaiti, Yahya, Aslanian, Alice, Banin, Eyal, Brooks, Brian P., Zein, Wadih M., Hufnagel, Robert B., Roosing, Susanne, Dhaenens, Claire‐Marie, Sharon, Dror, Cremers, Frans P. M., AlTalbishi, Alaa
Publicado 2022

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

por Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire-Marie, Cremers, Frans P.M.
Publicado 2023

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

por Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne
Publicado 2021