Anuj R. Jayakar - Publications

Influenza-Associated Acute Necrotizing Encephalopathy in US Children.

Journal: JAMA

Published: July 30, 2025

A scoping review on clinical and genetic diagnostic approaches for cerebral visual impairment.

Journal: Survey of ophthalmology

Published: May 20, 2025

Spike isolation from background signal in neonatal EEG data using an integrated independent component analysis method.

Journal: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

Published: March 05, 2025

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Journal: Frontiers in pediatrics

Published: December 05, 2023

Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy: An Emerging Cause of Meningoencephalomyelitis in Children and Adolescents.

Journal: Journal of child neurology

Published: November 20, 2023

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.

Journal: European journal of human genetics : EJHG

Published: November 18, 2023

Pediatric Critical Care Neurologists in the United States and Canada: A Survey of Clinical Practice Experience.

Journal: Journal of child neurology

Published: January 17, 2022

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.

Journal: The pharmacogenomics journal

Published: December 29, 2021

A Survey of Neuromonitoring Practices in North American Pediatric Intensive Care Units.

Journal: Pediatric neurology

Published: November 02, 2021

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

Journal: Human mutation

Published: July 27, 2021

Pediatric Acute Stroke Protocols in the United States and Canada.

Journal: The Journal of pediatrics

Published: July 06, 2021

A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.

Journal: Molecular syndromology

Published: June 20, 2020