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ARVO Annual Meeting Abstract July 2019

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

Miriam Bauwens; Alex Garanto; Riccardo Sangermano; Sarah Naessens; Nicole Weisschuh; Julie De Zaeytijd; Mubeen Khan; Françoise Sadler; Susanne Kohl; Bernd Wissinger; timothy cherry; Rob W J Collin; Frans P Cremers; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):377. doi:

ARVO Annual Meeting Abstract July 2019

The shorter the better?: Assessing novel therapeutic strategies for CRB1 -associated retinal disease

Alex Garanto; Anita Hoogendoorn; Joep J J Lurvink; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3389. doi:

ARVO Annual Meeting Abstract July 2019

Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

Rob W J Collin; Mubeen Khan; Riccardo Sangermano; Sarah Naessens; Miriam Bauwens; Carel C B Hoyng; Frauke Coppieters; Silvia Albert; Michael E Cheetham; Elfride De Baere; Frans P Cremers; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3401. doi:

ARVO Annual Meeting Abstract July 2019

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Sarah Naessens; Rob W J Collin; Frauke Coppieters; Miriam Bauwens; Lonneke Duijkers; Irina Balikova; Bart P Leroy; Elfride De Baere; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4950. doi:

ARVO Annual Meeting Abstract July 2018

ABCA4 midigenes reveal the full splice spectrum of all reported and newly identified non-canonical splice site variants in Stargardt disease

Mubeen Khan; Riccardo Sangermano; Stéphanie Cornelis; Valerie Richelle; Duaa Elmelik; Silvia Albert; Alex Garanto; Raheel Qamar; Dorien Lugtenberg; Ingeborgh Born; Rob W J Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4503. doi:

ARVO Annual Meeting Abstract July 2018

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

Alex Garanto; Riccardo Sangermano; Silvia Albert; Mubeen Khan; Miriam Bauwens; Sarah Naessens; Rando Allikmets; Ingeborgh Born; Carel C B Hoyng; Elfride De Baere; Frans P Cremers; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4532. doi:

ARVO Annual Meeting Abstract July 2018

Delivery and deployment of a ciliary actin dynamics module by PCARE drives the neogenesis of phototransductive membrane disks

Rob W J Collin; Julio Cesar Corral Serrano; Jeroen van Reeuwijk; Anita DM Hoogendoorn; Renate AA Ruigrok; Adem Yildirim; Stef JF Letteboer; Lonneke Duijkers; Sanae Sakami; Krzysztof Palczewski; Karsten Boldt; Uwe Wolfrum; Marius Ueffing; Alex Garanto; Ronald Roepman

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4979. doi:

ARVO Annual Meeting Abstract June 2015

Investigating the role of C2orf71 in the pathogenesis of retinitis pigmentosa

JC Corral Serrano; Stef Letteboer; Alex Garanto; Ronald Roepman; Rob W.J. Collin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4643. doi:

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