Maya Thomas

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 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia et al. · Nature Communications · 2016 · 323 citations · Full text

Life Sciences, Genetics, Neuroscience +17

KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

Felippe Borlot, Ahmed Abushama, Nadine Morrison‐Levy et al. · Epilepsia · 2020 · 85 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Cognitive changes following surgery in intractable hemispheric and sub-hemispheric pediatric epilepsy

Santhosh George Thomas, Roy Thomas Daniel, Ari G. Chacko et al. · Child s Nervous System · 2010 · 44 citations

Medicine, Neuroscience, Surgery +14

Revisiting magnetic resonance imaging pattern of Krabbe disease – Lessons from an Indian cohort

Karthik Muthusamy, Sniya Sudhakar, Maya Thomas et al. · Journal of Clinical Imaging Science · 2019 · 33 citations · Full text

Medicine, Pediatrics, Radiology +16