James A. Poulter

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Robert K. Koenekoop, Hui Wang, Jacek Majewski et al. · Nature Genetics · 2012 · 205 citations

Medicine, Genetics, Molecular Genetics +16

<i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Rob W.J. Collin, Konstantinos Nikopoulos, Margo Dona et al. · Proceedings of the National Academy of Sciences · 2013 · 188 citations · Full text

Medicine, Genetics, Ophthalmology +17

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Marcela A. Ferrada, Sinisa Savic, Daniela Ospina Cardona et al. · Blood · 2022 · 186 citations · Full text

Life Sciences, Genetics, Molecular Biology +7

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi, Kim D. Falkenberg, Manou Sommen et al. · The American Journal of Human Genetics · 2015 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

James A. Poulter, Steven J. Brookes, Claire E. L. Smith et al. · Human Molecular Genetics · 2014 · 126 citations · Full text

Dentistry, Genetics, Oral Biology +17