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 no Expert Rev Mol Diagn (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 em 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 no PLoS One (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 no Mol Vis (2018)

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 no Mol Genet Genomic Med (2017)