Silhavy, Jennifer L.

Top Publications

Top Publications Authored or Co-Authored by "Silhavy, Jennifer L."

• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

  Nature Genetics, Volume 38, No. 6, Year 2006, Citations 390
• Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

  American Journal of Human Genetics, Volume 83, No. 2, Year 2008, Citations 360
• Mutations in the AHI1 gene, encoding Jouberin, cause Jeubert syndrome with cortical polymicrogyria

  American Journal of Human Genetics, Volume 75, No. 6, Year 2004, Citations 279
• Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

  Science, Volume 338, No. 6105, Year 2012, Citations 272