Tracy Dixon‐Salazar
Lennox-Gastaut Syndrome Foundation(US)
Publications by Year
Research Areas
Epilepsy research and treatment, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neuroscience and Neuropharmacology Research, Pharmacological Effects and Toxicity Studies
Most-Cited Works
- → De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly(2012)691 cited
- → Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals(2019)299 cited
- → Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria(2004)290 cited
- → Exome Sequencing Can Improve Diagnosis and Alter Patient Management(2012)257 cited
- → Distinguishing the four genetic causes of jouberts syndrome–related disorders(2005)107 cited
- → Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome(2018)86 cited
- → Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects(2020)80 cited
- → Issues related to development of new antiseizure treatments(2013)79 cited
- → Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability(2014)71 cited
- → Seizure burden in severe early‐life epilepsy: Perspectives from parents(2019)65 cited