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• Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa6
• Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods5
• Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.25
• Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms4
• Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature4
• Historical control data on developmental toxicity studies in rats3
• Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study3
• Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes3
• Interkinetic nuclear migration in the tracheal and esophageal epithelia of the mouse embryo: Possible implications for tracheo-esophageal anomalies2