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Meeting Abstract (8)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (10)

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ARVO Annual Meeting Abstract (8)
Genetics (1)
Immunology and Microbiology (1)

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Genetics (2)
Biochemistry and Molecular Biology (1)
Eye Anatomy and Disorders (1)
Immunology and Microbiology (1)
Retina (1)

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genes (2)
abca4 gene (1)
complement system proteins (1)
genotype (1)
hereditary retinal dystrophy (1)
plasma (1)
proband (1)
proteins (1)
proteome (1)
retinal diseases (1)

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Genetics June 2025

Expansion of the ABCA4 -Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

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Daan M. Panneman; Rebekkah J. Hitti-Malin; Martin McKibbin; Suzanne E. de Bruijn; Erica G. M. Boonen; Andrea L. Vincent; Glenda Vargas; Jordi Corominas; Galuh Astuti; Christian Gilissen; Elfride De Baere; Chris F. Inglehearn; Susanne Roosing; Robert K. Koenekoop; Frans P. M. Cremers
TAGS: abca4 gene, retinal diseases, retinal dystrophies, genes, proband, whole genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):19. https://doi.org/10.1167/iovs.66.6.19

Includes: Supplemental Content

Immunology and Microbiology February 2025

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

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Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Aafke de Ligt; Xuan-Thanh-An Nguyen; Carel B. Hoyng; Chris F. Inglehearn; Martin McKibbin; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Terri L. McLaren; Alaa AlTalbishi; Daan M. Panneman; Erica G. M. Boonen; Sandro Banfi; Béatrice Bocquet; Isabelle Meunier; Elfride De Baere; Robert Koenekoop; Monika Ołdak; Carlo Rivolta; Lisa Roberts; Raj Ramesar; Rasa Strupaitė-Šileikienė; Susanne Kohl; G. Jane Farrar; Marion van Vugt; Jessica van Setten; Susanne Roosing; L. Ingeborgh van den Born; Camiel J. F. Boon; Maria M. van Genderen; Jonas J. W. Kuiper
TAGS: complement system proteins, hereditary retinal dystrophy, plasma, proteins, genotype, proteome, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):55. https://doi.org/10.1167/iovs.66.2.55

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

Dalila Capasso; Roberta Zeuli; Marianthi Karali; Raoul Timmermans; Michael Kwint; Enza Maria Valente; Sabrina Signorini; Gavin Arno; Frans Cremers; Sandro Banfi; Susanne Roosing; Daan Panneman; Suzanne E. de Bruijn

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4937.

ARVO Annual Meeting Abstract June 2024

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Dror Sharon; Tamar Hayman; Shai Ovadia; Jaya Krishnan; Manon Bouckaert; Daan Panneman; Milton English; Susanne Roosing; Frans Cremers; Tamar Ben-Yosef; Eyal Banin; Ruth Ashery-Padan; Frauke Coppieters; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4936.

ARVO Annual Meeting Abstract June 2024

Novel findings from a smMIPs sequencing study of 223 individuals from an Irish cohort with macular degenerations

Ella Kopcic; Rebekkah Hitti-Malin; Laura Whelan; Daan Panneman; Erica G.M. Boonen; Emma Duignan; Paul Kenna; David J Keegan; Laura K Finnegan; Frans Cremers; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4228.

ARVO Annual Meeting Abstract June 2024

An intronic REEP6 variant affecting the splicing of a retina-specific exon causes autosomal recessive retinitis pigmentosa in Palestinian patients

Manar Ismail Salameh; Daan Panneman; Susanne Roosing; Frans Cremers; Samer Khateb; Yahya Swaiti; Wissam Saleh; Eyal Banin; Alaa Talbishi; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6036.

ARVO Annual Meeting Abstract June 2023

Large scale smMIPs-based sequencing of 908 probands to provide a genetic diagnosis for patients with inherited macular diseases.

Rebekkah Hitti-Malin; Claire-Marie Dhaenens; Daan Panneman; Zelia Corradi; Anneke I. den Hollander; G Jane Farrar; Erica G.M Boonen; Christian Gilissen; Alexander Hoischen; Susanne Roosing; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3658.

ARVO Annual Meeting Abstract June 2023

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Daan Panneman; Susanne Roosing; Erica G.M Boonen; Chris Inglehearn; Martin McKibbin; Elfride De Baere; Thomy de Ravel; Sascha Vermeer; Andrea L Vincent; Robert K Koenekoop; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4518.

ARVO Annual Meeting Abstract June 2022

Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases.

Rebekkah J Hitti-Malin; Susanne Roosing; Claire-Marie Dhaenens; Anneke I Den Hollander; G.Jane Farrar; Daan Panneman; Erica G.M Boonen; Laura de Rooij; Mariana Guimaraes Ramos; Maartje van de Vorst; Bart de Koning; Christian Gilissen; Alexander Hoischen; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):41.

ARVO Annual Meeting Abstract June 2022

Cost-effective identification of causal variants in 113 genes underlying retinitis pigmentosa and Leber congenital amaurosis

Daan Panneman; Rebekkah J Hitti-Malin; Erica G.M Boonen; Lara K. Holtes; Mariana Guimaraes Ramos; Anna Maria Tracewska; Maartje van de Vorst; Bart de Koning; Christian Gilissen; Alexander Hoischen; Frans P Cremers; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):134 – A0314.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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