Next-Generation Sequencing Applications for Inherited Retinal Diseases

por Dockery, Adrian, Whelan, Laura, Humphries, Pete, Farrar, G. Jane
Publicado 2021

Gene expression changes during retinal development and rod specification

por Mansergh, Fiona C., Carrigan, Matthew, Hokamp, Karsten, Farrar, G. Jane
Publicado 2015

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

por Palfi, Arpad, Yesmambetov, Adlet, Humphries, Pete, Hokamp, Karsten, Farrar, G. Jane
Publicado 2020

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration

por Carrigan, Matthew, Duignan, Emma, Humphries, Pete, Palfi, Arpad, Kenna, Paul F, Farrar, G Jane
Publicado 2016

A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics

por Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.
Publicado 2019

AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice

por Palfi, Arpad, Chadderton, Naomi, Millington-Ward, Sophia, Post, Iris, Humphries, Pete, Kenna, Paul F., Farrar, G. Jane
Publicado 2022

Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa

por Loscher, Carol J, Hokamp, Karsten, Kenna, Paul F, Ivens, Alasdair C, Humphries, Peter, Palfi, Arpad, Farrar, G Jane
Publicado 2007

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

por Palfi, Arpad, Yesmambetov, Adlet, Millington-Ward, Sophia, Shortall, Ciara, Humphries, Pete, Kenna, Paul F., Chadderton, Naomi, Farrar, G. Jane
Publicado 2020

A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors

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

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations

por Dockery, Adrian, Stephenson, Kirk, Keegan, David, Wynne, Niamh, Silvestri, Giuliana, Humphries, Peter, Kenna, Paul F., Carrigan, Matthew, Farrar, G. Jane
Publicado 2017

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

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

SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration

por Finnegan, Laura K., Chadderton, Naomi, Kenna, Paul F., Palfi, Arpad, Carty, Michael, Bowie, Andrew G., Millington-Ward, Sophia, Farrar, G. Jane
Publicado 2022

Fibrotic Changes to Schlemm’s Canal Endothelial Cells in Glaucoma

por Kelly, Ruth A., Perkumas, Kristin M., Campbell, Matthew, Farrar, G. Jane, Stamer, W. Daniel, Humphries, Pete, O’Callaghan, Jeffrey, O’Brien, Colm J.
Publicado 2021

Toward an elucidation of the molecular genetics of inherited retinal degenerations

por Farrar, G. Jane, Carrigan, Matthew, Dockery, Adrian, Millington-Ward, Sophia, Palfi, Arpad, Chadderton, Naomi, Humphries, Marian, Kiang, Anna Sophia, Kenna, Paul F., Humphries, Pete
Publicado 2017

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

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

Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells

por Millington-Ward, Sophia, Chadderton, Naomi, Berkeley, Megan, Finnegan, Laura K., Hanlon, Killian S., Carrigan, Matthew, Humphries, Peter, Kenna, Paul F., Palfi, Arpad, Farrar, G. Jane
Publicado 2020

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing

por Stephenson, Kirk A. J., Zhu, Julia, Dockery, Adrian, Whelan, Laura, Burke, Tomás, Turner, Jacqueline, O’Byrne, James J., Farrar, G. Jane, Keegan, David J.
Publicado 2022

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report

por O’Connell, Ann, Zhu, Julia, Stephenson, Kirk A.J., Whelan, Laura, Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Farrar, G. Jane, Keegan, David
Publicado 2022

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

por Zhu, Julia, Stephenson, Kirk A. J., Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Fitzsimon, Susan, Farrar, G. Jane, Flitcroft, D. Ian, Keegan, David J.
Publicado 2022

microRNA regulatory circuits in a mouse model of inherited retinal degeneration

por Palfi, Arpad, Hokamp, Karsten, Hauck, Stefanie M., Vencken, Sebastian, Millington-Ward, Sophia, Chadderton, Naomi, Carrigan, Mathew, Kortvely, Elod, Greene, Catherine M., Kenna, Paul F., Farrar, G. Jane
Publicado 2016