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 · 201 citations · Full text

Ocular Disease, Retina, Mendelian Disorder +8

<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 · 179 citations · Full text

Ocular Disease, Peripheral Retina, Exome Sequencing +17

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Marcela A. Ferrada, Sinisa Savic, Daniela Ospina Cardona et al. · Blood · 2022 · 165 citations · Full text

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Gavin Arno, Smriti A. Agrawal, Aiden Eblimit et al. · The American Journal of Human Genetics · 2016 · 129 citations · Full text

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

James A. Poulter, Gina Murillo Knudsen, Steven J. Brookes et al. · Human Molecular Genetics · 2014 · 126 citations · Full text

Developmental Anomaly, Developmental Biology, Family Members +15