Ivan Prokudin

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

John Grigg, Gladys Ho, Ivan Prokudin et al. · Human Mutation · 2015 · 132 citations · Full text

Gap Junction Genes, Ocular Disease, Ophthalmology +12

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

Kagistia Hana Utami, Axel M. Hillmer, Irène Aksoy et al. · PLoS ONE · 2014 · 89 citations · Full text

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

Ivan Prokudin, Cas Simons, John Grigg et al. · European Journal of Human Genetics · 2013 · 71 citations · Full text

Causal Variants, Developmental Biology, Mendelian Disorder +10

Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization

Rebecca Greenlees, Marija Mihelec, Saira Yousoof et al. · Human Molecular Genetics · 2015 · 49 citations · Full text

New mutations in <scp>GJA8</scp> expand the phenotype to include total sclerocornea

Aiju Ma, John Grigg, Ivan Prokudin et al. · Clinical Genetics · 2017 · 24 citations