Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

por Chiang, John (Pei-Wen), Lamey, Tina, McLaren, Terri, Thompson, Jennifer A, Montgomery, Hannah, De Roach, John
Publicado 2015

Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa

por Paterson, Rachel L., De Roach, John N., McLaren, Terri L., Hewitt, Alex W., Hoffmann, Ling, Lamey, Tina M.
Publicado 2012

Enhanced Visualization of Subtle Outer Retinal Pathology by En Face Optical Coherence Tomography and Correlation with Multi-Modal Imaging

por Sampson, Danuta M., Alonso-Caneiro, David, Chew, Avenell L., Lamey, Tina, McLaren, Terri, De Roach, John, Chen, Fred K.
Publicado 2016

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy

por Souzeau, Emmanuelle, Thompson, Jennifer A., McLaren, Terri L., De Roach, John N., Barnett, Christopher P., Lamey, Tina M., Craig, Jamie E.
Publicado 2018

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

por McLaren, Terri L., De Roach, John N., Thompson, Jennifer A., Chen, Fred K., Mackey, David A., Hoffmann, Ling, Urwin, Isabella R., Lamey, Tina M.
Publicado 2020

The genetic profile of Leber congenital amaurosis in an Australian cohort

por Thompson, Jennifer A., De Roach, John N., McLaren, Terri L., Montgomery, Hannah E., Hoffmann, Ling H., Campbell, Isabella R., Chen, Fred K., Mackey, David A., Lamey, Tina M.
Publicado 2017

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants

por Zhang, Xiao, Thompson, Jennifer A., Zhang, Dan, Charng, Jason, Arunachalam, Sukanya, McLaren, Terri L., Lamey, Tina M., De Roach, John N., Jennings, Luke, McLenachan, Samuel, Chen, Fred K.
Publicado 2020

Genotype-Specific Lesion Growth Rates in Stargardt Disease

por Heath Jeffery, Rachael C., Thompson, Jennifer A., Lo, Johnny, Lamey, Tina M., McLaren, Terri L., McAllister, Ian L., Constable, Ian J., De Roach, John N., Chen, Fred K.
Publicado 2021

Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy

por Charng, Jason, Lamey, Tina M., Thompson, Jennifer A., McLaren, Terri L., Attia, Mary S., McAllister, Ian L., Constable, Ian J., Mackey, David A., De Roach, John N., Chen, Fred K.
Publicado 2020

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies

por Roshandel, Danial, Thompson, Jennifer A., Heath Jeffery, Rachael C., Sampson, Danuta M., Chelva, Enid, McLaren, Terri L., Lamey, Tina M., De Roach, John N., Durkin, Shane R., Chen, Fred K.
Publicado 2021

Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids

por Zhang, Xiao, Zhang, Dan, Thompson, Jennifer A., Chen, Shang‐Chih, Huang, Zhiqin, Jennings, Luke, McLaren, Terri L., Lamey, Tina M., De Roach, John N., Chen, Fred K., McLenachan, Samuel
Publicado 2021

Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11

por Roshandel, Danial, Thompson, Jennifer A., Heath Jeffery, Rachael C., Zhang, Dan, Lamey, Tina M., McLaren, Terri L., De Roach, John N., McLenachan, Samuel, Mackey, David A., Chen, Fred K.
Publicado 2021

Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers

por Roshandel, Danial, Lamey, Tina M., Charng, Jason, Heath Jeffery, Rachael C., McLaren, Terri L., Thompson, Jennifer A., De Roach, John N., McLenachan, Samuel, Mackey, David A., Chen, Fred K.
Publicado 2023

Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease

por Charng, Jason, Xiao, Di, Mehdizadeh, Maryam, Attia, Mary S., Arunachalam, Sukanya, Lamey, Tina M., Thompson, Jennifer A., McLaren, Terri L., De Roach, John N., Mackey, David A., Frost, Shaun, Chen, Fred K.
Publicado 2020

SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE

por Heath Jeffery, Rachael C., Thompson, Jennifer A., Lo, Johnny, Lamey, Tina M., McLaren, Terri L., De Roach, John N., Azamanov, Dimitar N., McAllister, Ian L., Constable, Ian J., Chen, Fred K.
Publicado 2022

Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence

por Heath Jeffery, Rachael C., Thompson, Jennifer A., Lo, Johnny, Lamey, Tina M., McLaren, Terri L., McAllister, Ian L., Mackey, David A., Constable, Ian J., De Roach, John N., Chen, Fred K.
Publicado 2021

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

por Huang, Di, Thompson, Jennifer A., Charng, Jason, Chelva, Enid, McLenachan, Samuel, Chen, Shang‐Chih, Zhang, Dan, McLaren, Terri L., Lamey, Tina M., Constable, Ian J., De Roach, John N., Aung‐Htut, May Thandar, Adams, Abbie, Fletcher, Sue, Wilton, Steve D., Chen, Fred K.
Publicado 2020

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

por McLenachan, Samuel, Zhang, Dan, Grainok, Janya, Zhang, Xiao, Huang, Zhiqin, Chen, Shang-Chih, Zaw, Khine, Lima, Alanis, Jennings, Luke, Roshandel, Danial, Moon, Sang Yoon, Heath Jeffery, Rachael C., Attia, Mary S., Thompson, Jennifer A., Lamey, Tina M., McLaren, Terri L., De Roach, John, Fletcher, Sue, Chen, Fred K.
Publicado 2021