Rob Collin
Radboud Universiteit
H-index: 50
Europe-Netherlands
Top articles of Rob Collin
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease | Scientific Reports | Melita Kaltak Petra de Bruijn Willemijn van Leeuwen Gerard Platenburg Frans PM Cremers | 2024/1/6 |
Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression | Ophthalmology | Catherina HZ Li Jeroen AAH Pas Zelia Corradi Rebekkah J Hitti-Malin Anne Hoogstede | 2024/1/1 |
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt … | Cells | Nuria Suárez-Herrera Catherina HZ Li Nico Leijsten Dyah W Karjosukarso Zelia Corradi | 2024/3/29 |
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4 | Molecular Therapy | Nuria Suárez-Herrera Iris B Riswick Irene Vázquez-Domínguez Lonneke Duijkers Dyah W Karjosukarso | 2024/1/18 |
Comprehensive study on late-onset Stargardt: disease characteristics, genetics and progression | Investigative Ophthalmology & Visual Science | Catherina Li Jeroen AAH Pas Anne Hoogstede Zelia Corradi Rebekkah Hitti-Malin | 2023/6/1 |
Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease | Stem Cell Research | Dyah W Karjosukarso Femke Bukkems Lonneke Duijkers Nico Leijsten Rob WJ Collin | 2023/9/1 |
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme | JCI insight | Siebren Faber Olivier Mercey Katrin Junger Alejandro Garanto Helen May-Simera | 2023/5/5 |
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants | Stem Cell Research | Dyah W Karjosukarso Femke Bukkems Lonneke Duijkers Nico Leijsten Carel B Hoyng | 2023/9/1 |
Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c. 4253+ 43G> A | Stem Cell Research | Nuria Suárez-Herrera Nico Leijsten Silvia Albert Nathalie M Bax Carel B Hoyng | 2023/12/1 |
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c. 5461-10T> C | Molecular Therapy-Nucleic Acids | Melita Kaltak Petra de Bruijn Davide Piccolo Sang-Eun Lee Kalyan Dulla | 2023/3/14 |
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids | Molecular Therapy-Methods & Clinical Development | Tess AV Afanasyeva Dimitra Athanasiou Pedro RL Perdigao Kae R Whiting Lonneke Duijkers | 2023/6/8 |
Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a | Ophthalmology Science | Jessie M Hendricks Juriaan R Metz Hedwig M Velde Jack Weeda Franca Hartgers | 2023/12/1 |
Probing the sub-cellular mechanisms of LCA5-Leber Congenital Amaurosis and associated gene therapy with expansion microscopy | bioRxiv | Siebren Faber Olivier Mercey Katrin Junger Alejandro Garanto Marius Ueffing | 2023/1/18 |
Retrospective Longitudinal Analysis of Visual Acuity Loss in Stargardt Patients; A Natural History Study | Investigative Ophthalmology & Visual Science | Jeroen Adrianus Antonius Hendrikus Pas Catherina Li Patty PA Dhooge Rob WJ Collin Carel CB Hoyng | 2023/6/1 |
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing | Human Molecular Genetics | Melita Kaltak Zelia Corradi Rob WJ Collin Jim Swildens Frans PM Cremers | 2023/11/1 |
PDE6D mediates trafficking of prenylated proteins NIM1K and UBL3 to primary cilia | Cells | Siebren Faber Stef JF Letteboer Katrin Junger Rossano Butcher Trinadh V Satish Tammana | 2023/1/13 |
A recurrent missense mutation in PRPH2 (p. Arg142Trp) exerts its pathogenicity by reducing the interaction between its encoded protein PRPH2 and ROM1, accompanied by erroneous … | Investigative Ophthalmology & Visual Science | Manon HCA Peeters Marta Brullas Anoek AMB Rooijakkers Alex Garanto Qin Liu | 2023/6/1 |
Medizinische Ansätze zur Regeneration des Hornhautendothels | Kompass Ophthalmologie | Pere Català Gilles Thuret Heli Skottman Jodhbir S Mehta Mohit Parekh | 2023/9/8 |
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial | Nature medicine | Stephen R Russell Arlene V Drack Artur V Cideciyan Samuel G Jacobson Bart P Leroy | 2022/5 |
Assessment of the molecular pathophysiology of central areolar choroidal dystrophy caused by a recurrent mutation (p. Arg142Trp) in PRPH2. | Investigative Ophthalmology & Visual Science | Manon HCA Peeters Anoek Rooijakkers Marta Brullas Qin Liu Anneke I Den Hollander | 2022/6/1 |
