The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss od Suzanne E. de Bruijn, Zeinab Fadaie, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing

Polni tekst

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in <i>ABCA4</i> od Tomasz Z. Tomkiewicz, Nuria Suárez-Herrera, Frans P. M. Cremers, Rob W. J. Collin, Alejandro Garanto

Polni tekst

Correction of the Splicing Defect Caused by a Recurrent Variant in <i>ABCA4</i> (c.769-784C>T) That Underlies Stargardt Disease od Tomasz Z. Tomkiewicz, Sara E. Nieuwenhuis, Frans P. M. Cremers, Alejandro Garanto, Rob W. J. Collin

Polni tekst

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families od Naeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, Arash Hejazifar, Alireza Dehghani, Frans P.M. Cremers, Mohammadreza Akhlaghi

Polni tekst

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. od Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, Frans P M Cremers, Susanne Kohl, Bernd Wissinger, Ditta Zobor

Polni tekst

QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease od Melita Kaltak, Petra de Bruijn, Willemijn van Leeuwen, Gerard Platenburg, Frans P. M. Cremers, Rob W. J. Collin, Jim Swildens

Polni tekst

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. od Alejandro Garanto, Sylvia E C van Beersum, Theo A Peters, Ronald Roepman, Frans P M Cremers, Rob W J Collin

Polni tekst

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. od Qin Liu, Rob W J Collin, Frans P M Cremers, Anneke I den Hollander, L Ingeborgh van den Born, Eric A Pierce

Polni tekst

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy od Sanne K. Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P. M. Cremers, Carel B. Hoyng, Susanne Roosing

Polni tekst

Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A od Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin

Polni tekst

Novel and Recurrent Copy Number Variants in <i>ABCA4</i>-Associated Retinopathy od Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Sandro Banfi, Marianthi Karali, Frans P. M. Cremers, Rebekkah J. Hitti-Malin

Polni tekst

Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i> od Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, Tamar Ben-Yosef

Polni tekst

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function od Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers

Polni tekst

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i> od Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers

Polni tekst

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency od Mubeen Khan, Stéphanie S. Cornelis, Riccardo Sangermano, Iris J.M. Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W.J. Collin, Frans P.M. Cremers

Polni tekst

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65 od Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, Silvia Albert, Luke O'Gorman, Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto

Polni tekst

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease od Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

Polni tekst

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients od Avigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, Myriam Berman, Oscar Iguzquiza, Frans P. M. Cremers, Muhammad Imran Khan, Anand Swaroop, Radgonde Amer, Samer Khateb, Tamar Ben-Yosef, Dror Sharon, Eyal Banin

Polni tekst

A proteogenomic atlas of the human neural retina od Tabea V. Riepe, Tabea V. Riepe, Tabea V. Riepe, Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Alfredo Dueñas Rey, Suzanne E. de Bruijn, Suzanne E. de Bruijn, Erica Boonen, Erica Boonen, Erica Boonen, Tomasz Z. Tomkiewicz, Tomasz Z. Tomkiewicz, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, Emma Delanote, Emma Delanote, Elfride De Baere, Elfride De Baere, Filip van Nieuwerburgh, Sarah De Keulenaer, Barbara Ferrari, Stefano Ferrari, Frauke Coppieters, Frauke Coppieters, Frauke Coppieters, Frans P. M. Cremers, Frans P. M. Cremers, Frans P. M. Cremers, Erwin van Wyk, Susanne Roosing, Susanne Roosing, Susanne Roosing, Erik de Vrieze, Peter A. C. ‘t Hoen

Polni tekst

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients od Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing

Polni tekst