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

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

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

par Souzeau, Emmanuelle, Thompson, Jennifer A., McLaren, Terri L., De Roach, John N., Barnett, Christopher P., Lamey, Tina M., Craig, Jamie E.
Publié dans Mol Vis (2018)

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

par McLaren, Terri L., De Roach, John N., Thompson, Jennifer A., Chen, Fred K., Mackey, David A., Hoffmann, Ling, Urwin, Isabella R., Lamey, Tina M.
Publié dans Hum Genome Var (2020)

The genetic profile of Leber congenital amaurosis in an Australian cohort

par 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.
Publié dans Mol Genet Genomic Med (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

par 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.
Publié dans Mol Genet Genomic Med (2020)

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

par 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.
Publié dans Transl Vis Sci Technol (2020)

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

par 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.
Publié dans Transl Vis Sci Technol (2021)

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

par 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
Publié dans Mol Genet Genomic Med (2021)

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

par 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.
Publié dans Genes (Basel) (2021)

Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease

par 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.
Publié dans Sci Rep (2020)

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

par Runhart, Esmee H., Khan, Mubeen, Cornelis, Stéphanie S., Roosing, Susanne, Del Pozo-Valero, Marta, Lamey, Tina M., Liskova, Petra, Roberts, Lisa, Stöhr, Heidi, Klaver, Caroline C. W., Hoyng, Carel B., Cremers, Frans P. M., Dhaenens, Claire-Marie
Publié dans JAMA Ophthalmol (2020)

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

par 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.
Publié dans Mol Genet Genomic Med (2020)