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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

artículo científico publicado en 2020

Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic

artículo científico publicado en 2020

Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach

artículo científico publicado en 2021

Assessing the landscape of STXBP1-related disorders in 534 individuals

artículo científico publicado en 2022

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery

artículo científico publicado en 2022

Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

artículo científico publicado en 2020

Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

scientific article published on 01 February 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

artículo científico publicado en 2020

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

artículo científico publicado en 2021

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

artículo científico publicado en 2021

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data

artículo científico publicado en 2021

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

artículo científico publicado en 2020

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

scientific article published on 06 May 2019

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

article

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

scientific article published on 04 September 2019

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

The dose makes the poison-Novel insights into Dravet syndrome and SCN1A regulation through nonproductive splicing

artículo científico publicado en 2021

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome

scientific article published on 14 July 2020

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