John N. De Roach

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Laura Whelan et al. · Genetics in Medicine · 2020 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The genetic profile of Leber congenital amaurosis in an Australian cohort

Jennifer A. Thompson, John N. De Roach, Terri L. McLaren et al. · Molecular Genetics & Genomic Medicine · 2017 · 56 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease

Esmee H. Runhart, Mubeen Khan, Stéphanie S. Cornelis et al. · JAMA Ophthalmology · 2020 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease

Jason Charng, Di Xiao, Maryam Mehdizadeh et al. · Scientific Reports · 2020 · 42 citations · Full text

Medicine, Computer Science, Ophthalmology +17

Establishment and evolution of the <scp>A</scp>ustralian <scp>I</scp>nherited <scp>R</scp>etinal <scp>D</scp>isease <scp>R</scp>egister and <scp>DNA B</scp>ank

John N. De Roach, Terri L. McLaren, Rachel L. Paterson et al. · Clinical and Experimental Ophthalmology · 2012 · 41 citations · Full text

Life Sciences, Genetics, Ophthalmology +12