Publications by authors named "John Roach"

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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, John N De Roach

Nat Genet· January 2026

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Did Not See that Coming: Sexual History before Steroid Therapy in Ocular Syphilis.
Pathya Kunthy, Hugo Bonatti, John Roach

Surg Infect (Larchmt)· September 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, John N De Roach

medRxiv· January 2025

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Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study.
Alexis Ceecee Britten-Jones, Chi D Luu, Jasleen K Jolly, Carla J Abbott, Penelope J Allen, John De Roach

Ophthalmol Sci· November 2024

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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
Suzanne E de Bruijn, Daan M Panneman, Nicole Weisschuh, Elizabeth L Cadena, Erica G M Boonen, John N de Roach

Front Genet· October 2024

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, John N De Roach

Biomolecules· March 2024

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Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT.
Rachael C Heath Jeffery, Johnny Lo, Jennifer A Thompson, Tina M Lamey, Terri L McLaren, John N De Roach

Ophthalmol Retina· February 2024

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Reply.
Rachael C Heath Jeffery, Johnny Lo, Jennifer A Thompson, Tina M Lamey, Terri L McLaren, John N De Roach

Ophthalmol Retina· December 2023

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Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia.
Heather G Mack, Alexis Ceecee Britten-Jones, Myra B McGuinness, Fred K Chen, John R Grigg, John De Roach

Gene Ther· April 2023

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Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy.
Rachael C Heath Jeffery, Jennifer A Thompson, Tina M Lamey, Terri L McLaren, John N De Roach

Ophthalmol Retina· January 2023

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Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers.
Danial Roshandel, Tina M Lamey, Jason Charng, Rachael C Heath Jeffery, Terri L McLaren, John N De Roach

Invest Ophthalmol Vis Sci· January 2023

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Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Di Huang, Jennifer A Thompson, Shang-Chih Chen, Abbie Adams, Ianthe Pitout, John N De Roach

Exp Eye Res· December 2022

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SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Tina M Lamey, Terri L McLaren, John N De Roach

Retina· August 2022

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CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE.
Rachael C Heath Jeffery, Jennifer A Thompson, Tina M Lamey, Terri L McLaren, Ian L McAllister, John N De Roach

Retina· December 2021

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Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Tina M Lamey, Terri L McLaren, John N De Roach

Genes (Basel)· December 2021

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Perinatal Quality and Equity-Indicators That Address Disparities.
Elizabeth Rochin, Kaitlin Reed, Andrew Rosa, Wendy Guida, John Roach

J Perinat Neonatal Nurs· October 2021

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Determinants of Disease Penetrance in -Associated Retinopathy.
Samuel McLenachan, Dan Zhang, Janya Grainok, Xiao Zhang, Zhiqin Huang, John De Roach

Genes (Basel)· September 2021

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Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.
Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Tina M Lamey, Jennifer A Thompson, John N De Roach

Stem Cell Res· July 2021

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Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene.
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M Lamey, John N De Roach

Stem Cell Res· July 2021

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Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M Lamey, John N De Roach

Stem Cell Res· July 2021

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Deep clinical phenotyping and gene expression analysis in a patient with -associated retinopathy.
Zhiqin Huang, Dan Zhang, Jennifer A Thompson, Saumya S Jamuar, Danial Roshandel, John N De Roach

Ophthalmic Genet· June 2021

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Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.
Heather G Mack, Fred K Chen, John Grigg, Robyn Jamieson, John De Roach

BMJ Open· June 2021

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Clinical Evidence for the Importance of the Wild-Type Allele in the Phenotypic Expression of RP11.
Danial Roshandel, Jennifer A Thompson, Rachael C Heath Jeffery, Dan Zhang, Tina M Lamey, John N De Roach

Genes (Basel)· June 2021

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Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Tina M Lamey, Terri L McLaren, John N De Roach

Ophthalmol Sci· March 2021

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Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.
Danial Roshandel, Jennifer A Thompson, Rachael C Heath Jeffery, Danuta M Sampson, Enid Chelva, John N De Roach

Transl Vis Sci Technol· February 2021

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