Biography and Research Information

Metrics

  • h-index: 67
  • Publications: 445
  • Citations: 14,253

Selected Publications

  • <i>De novo</i> and inherited monoallelic variants in <i>TUBA4A</i> cause ataxia and spasticity (2024) DOI
  • Adult phenotype of <i>KCNQ2</i> encephalopathy (2021) DOI

Collaborators

Researchers in the database who share publications

Similar Researchers

Based on overlapping research topics