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

Phenotypic spectrum and genetics of SCN 2A ‐related disorders, treatment options, and outcomes in epilepsy and beyond

(2020) Markus Wolff et al.   EPILEPSIA

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum

(2019) Jessica S. Suddaby et al.   PSYCHIATRIC GENETICS

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

(2019) Ingo Helbig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Doc2Hpo: a web application for efficient and accurate HPO concept curation

(2019) Cong Liu et al.   NUCLEIC ACIDS RESEARCH

HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology

(2019) Feichen Shen et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

(2018) Jung Hoon Son et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

(2018) Katherine B. Howell et al.   EPILEPSIA

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

(2018) Amanda S. Lindy et al.   EPILEPSIA

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

UniProt: the universal protein knowledgebase

(2018) The UniProt Consortium   NUCLEIC ACIDS RESEARCH

Relationship of electrophysiological dysfunction and clinical severity in SCN2A -related epilepsies

(2018) Stephan Lauxmann et al.   HUMAN MUTATION

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology

(2017) Robert S. Fisher et al.   EPILEPSIA

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Episodic ataxia associated with a de novo SCN2A mutation

(2016) Emma L. Leach et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

(2015) N. Schwarz et al.   JOURNAL OF NEUROLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Genotype phenotype associations across the voltage-gated sodium channel family

(2014) Andreas Brunklaus et al.   JOURNAL OF MEDICAL GENETICS

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Clinical spectrum of SCN2A mutations

(2011) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

(2010) Y. Liao et al.   NEUROLOGY

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

Semantic Similarity in Biomedical Ontologies

(2009) Catia Pesquita et al.   PLoS Computational Biology