Paper: Genetic prescreening of a candidate for laser refractive surgery identifies risk for inadequate tissue response: a case report
Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects – (2019)
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing – (2019)
Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy – (2018)
De novo variants unveil inner ear malformation and deafness – (2018)
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss – (2019)
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry
