DBHi Translational Informatics Publications

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Below is a list of selected publications from the Translational Informatics group:

Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery
Hum Mutat · November, 2022
Hypereosinophilia in NICU patients with a neonatal lymphatic flow disorder
J Perinatol · November, 2022
Visits of concern in child neurology telemedicine
Dev Med Child Neurol · November, 2022
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome
Mol Genet Metab · October, 2022
Ketamine for Management of Neonatal and Pediatric Refractory Status Epilepticus
Neurology · September, 2022
Rates of laboratory adverse events by course in paediatric leukaemia ascertained with automated electronic health record extraction: a retrospective cohort study from the Children's Oncology Group
Lancet Haematol · September, 2022
Automated Ascertainment of Typhlitis From the Electronic Health Record
JCO Clin Cancer Inform · September, 2022
Hematologic abnormalities in Aicardi Goutières Syndrome
Mol Genet Metab · August, 2022
Rates of laboratory adverse events by course in paediatric leukaemia ascertained with automated electronic health record extraction: a retrospective cohort study from the Children's Oncology Group
Pediatr Nephrol · July, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals
Brain · June, 2022
Novel use of a virtual driving assessment to classify driver skill at the time of licensure
Transp Res Part F Traffic Psychol Behav · May, 2022
Multicenter Study of the Impact of COVID-19 Shelter-In-Place on Tertiary Hospital-based Care for Pediatric Neurologic Disease
Neurohospitalist · April, 2022
Pediatric high-grade glioma resources from the Children’s Brain Tumor Tissue Consortium
Neuro Oncology · January, 2020
Preliminary exploratory data analysis of simulated national clinical data research network for future use in annotation of a rare tumor biobanking initiative
2017 IEEE International Conference on Bioinformatics and Biomedicine · November, 2017
Gene-12. The Children’s Brain Tumor Tissue Consortium infrastructure facilitates collaborative research in pediatric central nervous system tumors
Neuro Oncol · June, 2017
The biorepository portal toolkit: an honest brokered, modular service oriented software tool set for biospecimen-driven translational research
BMC Genomics · August, 2016
Scalable biobanking: A modular electronic Honest Broker and Biorepository for integrated clinical, specimen and genomic research
2015 IEEE International Conference on Bioinformatics and Biomedicine · November, 2015