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- 2014
- Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia
- Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
- Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
- Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
- 2013
- Mutations in IMPG1 cause vitelliform macular dystrophies
- Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder
- A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
- Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
- 2012
- A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia