Simon Edvardson

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

William B Dobyns, Hanna Mandel, Bruria Ben-Zeev, 2010, American journal of human genetics.

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

Yaniv Erlich, Emily Hodges, G. Hannon, 2011, Genome research.