• A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum
• A family with autosomal dominant oculo-auriculo-vertebral spectrum
• A new syndrome with cerebro-oculo-skeletal-renal involvement
• Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome
• Craniofacial and extracraniofacial anomalies in craniofacial microsomia: a multicenter study of 755 patients’
• Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach
• Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
• Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City
• Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients
• TFII-I and AP2α Co-Occupy the Promoters of Key Regulatory Genes Associated with Craniofacial Development
• The cerebro-oculo-facio-skeletal syndrome