Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
Author:
Funder
National Institutes of Health
Glaucoma Research Foundation
Research to Prevent Blindness
Publisher
Elsevier BV
Subject
Ophthalmology
Reference55 articles.
1. Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis;Ma;Hum Genet,2019
2. Genetics of anterior segment dysgenesis disorders;Reis;Curr Opin Ophthalmol,2011
3. The Oculome Panel Test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders;Patel;Ophthalmology,2019
4. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing;Consugar;Genet Med,2015
5. Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka;Javadiyan;Mol Genet Genomic Med,2018
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