Tracy Dixon‐Salazar

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Jeong Ho Lee, My N. Huynh, Jennifer L. Silhavy et al. · Nature Genetics · 2012 · 689 citations · Full text

Molecular Neuroscience, Signal Transduction, Somatic Mutations +10

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh et al. · The American Journal of Human Genetics · 2004 · 289 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa et al. · Science Translational Medicine · 2012 · 256 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +18

Distinguishing the four genetic causes of jouberts syndrome–related disorders

Enza Maria Valente, Sarah Marsh, Marco Castori et al. · Annals of Neurology · 2005 · 107 citations

Developmental Anomaly, Nphp1 Gene, Developmental Biology +14