Spencer, Emily G.

Top Publications

Top Publications Authored or Co-Authored by "Spencer, Emily G."

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

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• XAMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

  Cell, Volume 154, No. 3, Year 2013, Citations 94
• Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

  Neuron, Volume 84, No. 6, Year 2014, Citations 94
• Mutations in CSPP1 lead to classical joubert syndrome

  American Journal of Human Genetics, Volume 94, No. 1, Year 2014, Citations 78
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72