Jayakar, Parul B.

Top Publications

Top Publications Authored or Co-Authored by "Jayakar, Parul B."

• Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

  Human Mutation, Volume 43, No. 3, Year 2022, Citations 75
• Megalencephalic leukoencephalopathy with cysts without MLC1 defect two phenotypes

  Annals of Neurology, Volume 67, No. 6, Year 2010, Citations 56
• Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

  Human Mutation, Volume 42, No. 6, Year 2021, Citations 50
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 24
• Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States

  Pharmacogenomics Journal, Volume 22, No. 4, Year 2022, Citations 15