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1. Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis. Issue 3 (4th December 2013)

3. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. (6th January 2015)