Elise Héon

Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

Tayebeh Rezaie, Anne H. Child, Roger A. Hitchings et al. · Science · 2002 · 1.1K citations

Life Sciences, Genetics, Ophthalmology +13

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Artur V. Cideciyan, Tomás S. Alemán, Sanford L. Boye et al. · Proceedings of the National Academy of Sciences · 2008 · 664 citations · Full text

Medicine, Genetics, Ophthalmology +17

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations

John H. Fingert, Elise Héon, J. M. Liebmann et al. · Human Molecular Genetics · 1999 · 552 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Edwin M. Stone, Andrew Lotery, Francis L. Munier et al. · Nature Genetics · 1999 · 495 citations

Medicine, Genetics, Molecular Genetics +16