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1. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

2. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

3. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

4. The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)

8. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

10. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

12. Contributors

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