Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

This publication has 37 references indexed in Scilit:

• Exome sequencing identifies the cause of a mendelian disorder
  Nature Genetics, 2009
• Clinical and Molecular Evaluation of Probands and Family Members with Familial Exudative Vitreoretinopathy
  Investigative Opthalmology & Visual Science, 2009
• Targeted capture and massively parallel sequencing of 12 human exomes
  Nature, 2009
• Pentatricopeptide repeat domain protein 1 lowers the levels of mitochondrial leucine tRNAs in cells
  Nucleic Acids Research, 2009
• IFRD1 Is a Candidate Gene for SMNA on Chromosome 7q22-q23
  American Journal of Human Genetics, 2009
• The diploid genome sequence of an Asian individual
  Nature, 2008
• Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled‐4
  European Journal of Neuroscience, 2008
• A model for familial exudative vitreoretinopathy caused by LPR5 mutations
  Human Molecular Genetics, 2008
• Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
  Genome Research, 2005
• Processing, localization and binding activity of zonadhesin suggest a function in sperm adhesion to the zona pellucida during exocytosis of the acrosome
  Biochemical Journal, 2003