Elise Héon

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello et al. · The American Journal of Human Genetics · 1998 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutational Spectrum of the<i>ZEB1</i>Gene in Corneal Dystrophies Supports a Genotype–Phenotype Correlation

Judith Lechner, Durga Prasad Dash, Dorota Muszynska et al. · Investigative Ophthalmology & Visual Science · 2013 · 74 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Visual Function and Central Retinal Structure in Choroideremia

Elise Héon, Talal Alabduljalil, David B. McGuigan et al. · Investigative Ophthalmology & Visual Science · 2016 · 74 citations · Full text

Medicine, Genetics, Ophthalmology +17

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

Ajoy Vincent, Isabelle Audo, Erika Tavares et al. · The American Journal of Human Genetics · 2016 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic in<i>KCNV2-</i>Related “Cone Dystrophy with Supernormal Rod Electroretinogram”

Ajoy Vincent, Tom Wright, Yaiza Garcia-Sanchez et al. · Investigative Ophthalmology & Visual Science · 2012 · 48 citations · Full text

Medicine, Ophthalmology, Vision Science +17