Abigail E. Collins

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 582 citations · Full text

Loss of <i>BETA2/NeuroD</i> leads to malformation of the dentate gyrus and epilepsy

Min Liu, Samuel J. Pleasure, Abigail E. Collins et al. · Proceedings of the National Academy of Sciences · 2000 · 279 citations

Unique Expression Patterns of Cell Fate Molecules Delineate Sequential Stages of Dentate Gyrus Development

Samuel J. Pleasure, Abigail E. Collins, Daniel H. Lowenstein · Journal of Neuroscience · 2000 · 233 citations · Full text

Cell Specialization, Cellular Neurobiology, Social Sciences +22

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, <i>CARS2,</i> lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich et al. · Journal of Medical Genetics · 2015 · 81 citations · Full text