Selected Publications

Academic Article

Year Title Altmetric
2018 De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesAmerican Journal of Human Genetics.  103:154-162. 2018
2018 Triheptanoin: A rescue therapy for cardiogenic shock in carnitine-acylcarnitine translocase deficiencyJIMD Reports.  39:19-23. 2018
2016 Respiratory system involvement in Costello syndromeAmerican Journal of Medical Genetics Part A.  170:1849-1857. 2016
2016 Clinical Course of Six Children with GNAO1 Mutations Causing a Severe and Distinctive Movement DisorderPediatric Neurology.  59:81-84. 2016
2014 An unusual cause of peroneal neuropathySeminars in Pediatric Neurology.  21:77-81. 2014

Education And Training

  • Baylor College of Medicine/Texas Childrens Hospital, Residency
  • UCSF Benioff Children's Hospital Oakland, Residency
  • Stanford University, Postdoctoral Fellowship
  • Doctor of Medicine, University of Alabama at Birmingham 2009
  • Full Name

  • Amitha Ananth