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Human Molecular Genetics|April 27, 2017
Arl3 and RP2 regulate the trafficking of ciliary tip kinesinsNele Schwarz, Amelia Lane, Katarina Jovanovic, et al.
Stem Cell Reports|June 13, 2020
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal OrganoidsAmelia Lane, Katarina Jovanovic, Ciara Shortall, et al.
Acta Neuropathologica Communications|February 11, 2025
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoidsDimitra Athanasiou, Tess A V Afanasyeva, Niuzheng Chai, et al.
Ophthalmology|November 24, 2022
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural HistoryMichalis Georgiou, Anthony G Robson, Katarina Jovanovic, et al.
Cell Stem Cell|May 7, 2016
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsDavid A Parfitt, Amelia Lane, Conor M Ramsden, et al.
Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
American Journal of Human Genetics|February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
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