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

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 en Mol Vis (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 en Hum Genome Var (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 en 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

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 en Mol Genet Genomic Med (2020)

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 en Transl Vis Sci Technol (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 en 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

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 en Mol Genet Genomic Med (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 en Genes (Basel) (2021)

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 en Sci Rep (2020)

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

por 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
Publicado en JAMA Ophthalmol (2020)

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 en Mol Genet Genomic Med (2020)