Rob W.J. Collin

Overview

Best Publications

• Non-syndromic retinitis pigmentosa

  Sanne K. Verbakel;Ramon A.C. van Huet;Camiel J.F. Boon;Anneke I. den Hollander

  762
  Citations

• Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

  Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki

  391
  Citations

• Next-generation genetic testing for retinitis pigmentosa.

  Kornelia Neveling;Rob W.J. Collin;Christian Gilissen;Ramon A.C. van Huet

  339
  Citations

• Delivery of oligonucleotide-based therapeutics: challenges and opportunities.

  Suzan M. Hammond;Annemieke Aartsma-Rus;Sandra Alves;Sven Even F. Borgos

  335
  Citations

• Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

  Konstantinos Nikopoulos;Christian Gilissen;Alexander Hoischen;C. Erik van Nouhuys

  274
  Citations

• Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

  Alberta A.H.J. Thiadens;Alberta A.H.J. Thiadens;Anneke I. den Hollander;Anneke I. den Hollander;Susanne Roosing;Sander B. Nabuurs

  235
  Citations

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

  Frans P.M. Cremers;Winston Lee;Rob W.J. Collin;Rando Allikmets

  226
  Citations

• In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery

  Alejandro Garanto;Daniel C. Chung;Lonneke Duijkers;Julio C. Corral-Serrano

  218
  Citations

• Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290.

  Rob Wj Collin;Anneke I den Hollander;Saskia D van der Velde-Visser;Jeannette Bennicelli

  217
  Citations

• ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

  Rob W. J. Collin;Konstantinos Nikopoulos;Margo Dona;Christian Gilissen

  184
  Citations

• Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

  Rob W.J. Collin;Karin W. Littink;B. Jeroen Klevering;L. Ingeborgh van den Born

  179
  Citations

• Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

  Riccardo Sangermano;Alejandro Garanto;Mubeen Khan;Esmee H. Runhart

  170
  Citations

• Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

  Konstantinos Nikopoulos;Hanka Venselaar;Rob W. J. Collin;Rosa Riveiro-Alvarez

  168
  Citations

• ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

  Miriam Bauwens;Alejandro Garanto;Riccardo Sangermano;Sarah Naessens

  163
  Citations

• Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

  Kinga M. Bujakowska;Qi Zhang;Anna M. Siemiatkowska;Qin Liu

  161
  Citations

• A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.

  Karin W. Littink;Jan-Willem R. Pott;Rob W. J. Collin;Rob W. J. Collin;Hester Y. Kroes

  159
  Citations

• ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

  Riccardo Sangermano;Mubeen Khan;Mubeen Khan;Stéphanie S. Cornelis;Valerie Richelle

  150
  Citations

• Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

  Kalyan Dulla;Monica Aguila;Amelia Lane;Katarina Jovanovic

  150
  Citations

• Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

  Hui Wang;Anneke I. Den Hollander;Yalda Moayedi;Abuduaini Abulimiti

  142
  Citations

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

  Alejandro Garanto;Sylvia E. C. van Beersum;Theo A. Peters;Ronald Roepman

  136
  Citations