Prab Prabhakar

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 916 citations · Full text

Autoimmune Disease, Genetic Disorder, Genetics +7

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 285 citations · Full text

Chromatin, Genome Instability, Cause Coats +9

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J. Taft, Adeline Vanderver, Richard J. Leventer et al. · The American Journal of Human Genetics · 2013 · 184 citations · Full text

Neuroregeneration, Spinal Cord Injury, Amyotrophic Lateral Sclerosis +12

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins et al. · Brain · 2013 · 148 citations · Full text

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher et al. · Nature Genetics · 2016 · 145 citations · Full text

Neurological Disorder, Genetic Disorder, Pathology +5