Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

por Cremers, Frans P. M., Boon, Camiel J. F., Bujakowska, Kinga, Zeitz, Christina
Publicado 2018

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

por Cremers, Frans P.M., Lee, Winston, Collin, Rob W.J., Allikmets, Rando
Publicado 2020

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

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

por de Bruijn, Suzanne E., Fadaie, Zeinab, Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne
Publicado 2021

Benchmarking deep learning splice prediction tools using functional splice assays

por Riepe, Tabea V., Khan, Mubeen, Roosing, Susanne, Cremers, Frans P. M., 't Hoen, Peter A. C.
Publicado 2021

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

por Tomkiewicz, Tomasz Z., Suárez-Herrera, Nuria, Cremers, Frans P. M., Collin, Rob W. J., Garanto, Alejandro
Publicado 2021

Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease

por Tomkiewicz, Tomasz Z., Nieuwenhuis, Sara E., Cremers, Frans P. M., Garanto, Alejandro, Collin, Rob W. J.
Publicado 2022

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

por Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P. M., Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta
Publicado 2018

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

por Tayebi, Naeimeh, Akinrinade, Oyediran, Khan, Muhammad Imran, Hejazifar, Arash, Dehghani, Alireza, Cremers, Frans P.M., Akhlaghi, Mohammadreza
Publicado 2019

Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families

por Ghofrani, Mohammad, Yahyaei, Mahin, Brunner, Han G., Cremers, Frans P.M., Movasat, Morteza, Khan, Muhammad Imran, Keramatipour, Mohammad
Publicado 2017

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

por Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Publicado 2013

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

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease

por Waheed, Nadia K., Qavi, Ahmed H., Malik, Sarah N., Maria, Maleeha, Riaz, Moeen, Cremers, Frans P. M., Azam, Maleeha, Qamar, Raheel
Publicado 2012

The Molecular Basis of Retinal Dystrophies in Pakistan

por Khan, Muhammad Imran, Azam, Maleeha, Ajmal, Muhammad, Collin, Rob W. J., den Hollander, Anneke I., Cremers, Frans P. M., Qamar, Raheel
Publicado 2014

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

por Liu, Qin, Collin, Rob W. J., Cremers, Frans P. M., den Hollander, Anneke I., van den Born, L. Ingeborgh, Pierce, Eric A.
Publicado 2012

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

por Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S., Ayuso, Carmen, Cremers, Frans P. M., Roosing, Susanne, The ABCA4 study group
Publicado 2019

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

por Verbakel, Sanne K., Fadaie, Zeinab, Klevering, B. Jeroen, van Genderen, Maria M., Feenstra, Ilse, Cremers, Frans P. M., Hoyng, Carel B., Roosing, Susanne
Publicado 2019

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

por Vázquez-Domínguez, Irene, Li, Catherina H. Z., Fadaie, Zeinab, Haer-Wigman, Lonneke, Cremers, Frans P. M., Garanto, Alejandro, Hoyng, Carel B., Roosing, Susanne
Publicado 2022

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

por Kaltak, Melita, Blanco-Garavito, Rocio, Molday, Laurie L., Dhaenens, Claire-Marie, Souied, Eric E., Platenburg, Gerard, Swildens, Jim, Molday, Robert S., Cremers, Frans P. M.
Publicado 2023

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen

por Paun, Codrut C., Pijl, Benjamin J., Siemiatkowska, Anna M., Collin, Rob W.J., Cremers, Frans P.M., Hoyng, Carel B., den Hollander, Anneke I.
Publicado 2012