Next-Generation Sequencing Applications for Inherited Retinal Diseases

by Adrian Dockery, Laura Whelan, Pete Humphries, G. Jane Farrar
Published 2021-05-01

Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice

by Arpad Palfi, Adlet Yesmambetov, Pete Humphries, Karsten Hokamp, G. Jane Farrar
Published 2020-06-01

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

by Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar, David Keegan
Published 2018-11-01

AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas

by Arpad Palfi, Adlet Yesmambetov, Sophia Millington-Ward, Ciara Shortall, Pete Humphries, Paul F. Kenna, Naomi Chadderton, G. Jane Farrar
Published 2020-08-01

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations

by Adrian Dockery, Kirk Stephenson, David Keegan, Niamh Wynne, Giuliana Silvestri, Peter Humphries, Paul F. Kenna, Matthew Carrigan, G. Jane Farrar
Published 2017-11-01

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

by Anna-Sophia Kiang, Paul F. Kenna, Marian M. Humphries, Ema Ozaki, Robert K. Koenekoop, Matthew Campbell, G. Jane Farrar, Pete Humphries
Published 2020-11-01

A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors

by Killian S. Hanlon, Naomi Chadderton, Arpad Palfi, Alfonso Blanco Fernandez, Peter Humphries, Paul F. Kenna, Paul F. Kenna, Sophia Millington-Ward, G. Jane Farrar
Published 2017-09-01

Fibrotic Changes to Schlemm’s Canal Endothelial Cells in Glaucoma

by Ruth A. Kelly, Kristin M. Perkumas, Matthew Campbell, G. Jane Farrar, W. Daniel Stamer, Pete Humphries, Jeffrey O’Callaghan, Colm J. O’Brien
Published 2021-08-01

Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

by Paul F Kenna, Marian M Humphries, Anna-Sophia Kiang, Philippe Brabet, Laurent Guillou, Ema Ozaki, Matthew Campbell, G Jane Farrar, Robert Koenekoop, Pete Humphries
Published 2020-10-01

Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland

by Laura Whelan, Adrian Dockery, Niamh Wynne, Julia Zhu, Kirk Stephenson, Giuliana Silvestri, Jacqueline Turner, James J. O’Byrne, Matthew Carrigan, Peter Humphries, David Keegan, Paul F. Kenna, G. Jane Farrar
Published 2020-01-01

siRNA targeting Schlemm’s canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model

by Paul S. Cassidy, Ruth A. Kelly, Ester Reina-Torres, Joseph M. Sherwood, Marian M. Humphries, Anna-Sophia Kiang, G. Jane Farrar, Colm O’Brien, Matthew Campbell, W. Daniel Stamer, Darryl R. Overby, Pete Humphries, Jeffrey O’Callaghan
Published 2021-03-01

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

by Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan
Published 2021-05-01

Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

by Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
Published 2021-06-01