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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
TLDR
The updated HPO database is described, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO, allowing integration of existing datasets and interoperability with multiple biomedical resources.
The Human Phenotype Ontology in 2017
TLDR
The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
TLDR
The results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
TLDR
Results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
TLDR
The odds ratio is 68, indicating a pathogenic lesion predisposing to epilepsy with complex inheritance and incomplete penetrance for the IGE component of the phenotype in multiplex families.
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
TLDR
Common etiological factors for seemingly diverse diseases such as ID, autism, schizophrenia, and epilepsy are suggested, including copy number variants in genes previously implicated in other neurodevelopmental disorders.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
TLDR
Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
TLDR
Exome sequencing for parent-offspring trios with fever-sensitive, intractable epileptic encephalopathy led to the discovery of two de novo missense HCN1 mutations, providing clear evidence that de noVOHCN1 point mutations cause a recognizable early-onset epilepticEncephalopathy in humans.
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
TLDR
The present results indicate an involvement of micro deletions at 15q11.2 and 16p13.11 in epileptogenesis and strengthen the evidence that recurrent microdeletions in this cohort confer a pleiotropic susceptibility effect to a broad range of neuropsychiatric disorders.
Connexin36 Mediates Spike Synchrony in Olfactory Bulb Glomeruli
TLDR
The results indicate that Cx36-mediated gap junctions between mitral cells orchestrate rapid coordinated signaling via a novel form of electrochemical transmission.
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