The Oculome Panel Test Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders - Aara Patel; Jane D. Hayward; Vijay Tailor; Rodney Nyanhete; Helena Ahlfors; Camila Gabriel; Tommaso B. Jannini; Yassir Abbou-Rayyah; Robert Henderson; Ken K. Nischal; Lily Islam; Maria Bitner-Glindzicz; et al. (My University, 2019)
Keywords: anterior segment dysgenesis; childhood blindness; congenital cataract; susceptibility loci; medical genetics; american-college; united-kingdom; mutations; foxc1; anophthalmia; adolescent; child; child, preschool; dna copy number variations; eye abnormalities; female; genome, human; high-throughput nucleotide sequencing; humans; infant; infant, newborn; male; molecular diagnostic techniques; mutation; pedigree; proteome; aldh1a3 protein; cytochrome p450 1b1; genomic dna; growth differentiation factor 3; growth differentiation factor 6; protein; transcription factor foxc1; unclassified drug; proteome; adolescent; albinism; anophthalmia; article; bioinformatics; child; coloboma; congenital cataract; controlled study; copy number variation; diagnostic test; diagnostic value; ethnicity; eye disease; female; gene frequency; genetic association; genetic variability; heterozygote; high throughput sequencing; human; infant; major clinical study; male; microphthalmia; molecular diagnosis; newborn; next generation sequencing; optic nerve atrophy; phenotype; pilot study; priority journal; retina dystrophy; strabismus; eye malformation; genetics; human genome; molecular diagnosis; mutation; pedigree; preschool child; procedures