Jo Lowndes

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to <i>OPA1</i> mutations

Chunyan Liao, Neil Ashley, Alan Diot et al. · Neurology · 2016 · 96 citations · Full text

Life Sciences, Cell Biology, Genetics +17

Understanding the impact of genetic testing for inherited retinal dystrophy

Ryan Combs, Marion McAllister, Katherine Payne et al. · European Journal of Human Genetics · 2013 · 37 citations · Full text

Medicine, Genetics, Ophthalmology +12

Understanding the expectations of patients with inherited retinal dystrophies

Ryan Combs, Georgina Hall, Katherine Payne et al. · British Journal of Ophthalmology · 2013 · 31 citations

Life Sciences, Genetics, Ophthalmology +14

<i><scp>PAX6</scp></i> mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

Neena M. Peter, Martin Leyland, Hardeep Singh Mudhar et al. · Clinical and Experimental Ophthalmology · 2013 · 24 citations

Medicine, Genetics, Ophthalmology +17

Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy

Katharina Späth, D Babariya, Jo Lowndes et al. · Fertility and Sterility · 2021 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17