Delphine Blain

Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

Benjamin D. Solomon, Daniel Pineda‐Alvarez, Joan Z. Balog et al. · American Journal of Medical Genetics Part A · 2009 · 92 citations · Full text

Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Lori S. Sullivan, Sara J. Bowne, Melissa Reeves et al. · Investigative Ophthalmology & Visual Science · 2013 · 74 citations · Full text

Genetic testing for inherited eye conditions in over 6,000 individuals through the <scp>eyeGENE</scp> network

Kerry Goetz, Melissa Reeves, Shaina Gagadam et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2020 · 47 citations · Full text

Genotype–phenotype associations in a large <i>PRPH2</i>‐related retinopathy cohort

Melissa Reeves, Kerry Goetz, Bin Guan et al. · Human Mutation · 2020 · 38 citations · Full text

Ocular Manifestations of Trichothiodystrophy

Brian P. Brooks, A. Thompson, Janine A. Clayton et al. · Ophthalmology · 2011 · 32 citations

Ocular Disease, Ophthalmology, Optic Neuropathy +4