Paper Details

Paper Title

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Paper Journal Title

Genet Med

Paper Citation Count

Paper Publication Year

2021

Bio Mention

HPO, Human, NaV1, SCN2A, SCN2A variants, SCN2A-related disorders, autism, behavioral abnormalities, epileptic spasms, seizures

Mesh Descriptor

Author Name	Affiliation
Peter D Galer	Children's Hospital of Philadelphia
Peter D Galer	Children's Hospital of Philadelphia
Peter D Galer	Children's Hospital of Philadelphia
David Lewis-Smith	Translational and Clinical Research Institute, Newcastle University
David Lewis-Smith	Royal Victoria Infirmary
Deanne Taylor	Children's Hospital of Philadelphia
Deanne Taylor	University of Pennsylvania Perelman School of Medicine
Roland Krause	University of Luxembourg
Ingo Helbig	Children's Hospital of Philadelphia
Ingo Helbig	Children's Hospital of Philadelphia
Ingo Helbig	Children's Hospital of Philadelphia
Ingo Helbig	University of Pennsylvania

Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

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