Finally, this study builds on @hp_ontology and especially the groundbreaking work by @IngoHelbig and colleagues (@JulieXXian, @DLSneurocyclist, many others). Give them a follow! Some of my favourite work of theirs: https://t.co/ibTVYLClrx, https://t.co/J0o
RT @FamilieSCN2A: SCN2A-related disorders (SRD) result in a wide range of neurodevelopmental phenotypes that can be correlated with the typ…
RT @FamilieSCN2A: SCN2A-related disorders (SRD) result in a wide range of neurodevelopmental phenotypes that can be correlated with the typ…
RT @FamilieSCN2A: SCN2A-related disorders (SRD) result in a wide range of neurodevelopmental phenotypes that can be correlated with the typ…
RT @FamilieSCN2A: SCN2A-related disorders (SRD) result in a wide range of neurodevelopmental phenotypes that can be correlated with the typ…
RT @FamilieSCN2A: SCN2A-related disorders (SRD) result in a wide range of neurodevelopmental phenotypes that can be correlated with the typ…
RT @FamilieSCN2A: SCN2A-related disorders (SRD) result in a wide range of neurodevelopmental phenotypes that can be correlated with the typ…
SCN2A-related disorders (SRD) result in a wide range of neurodevelopmental phenotypes that can be correlated with the type of variant (genotype). Learn more here https://t.co/6VBn7d6KKS https://t.co/v0g7nj5Toq
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders. https://t.co/R1nEAK27Gq
RT @shridparth: ... SCN2A is the "first genetic epilepsy to be completely digitized" ... the recurrent p.R853Q variant is a clinically dis…
... SCN2A is the "first genetic epilepsy to be completely digitized" ... the recurrent p.R853Q variant is a clinically distinctive entity representing a "disease in itself" ... and, functional effects can be discriminated by phenotypic data... https:/
RT @DLSneurocyclist: Our latest from @IngoHelbig lab. A dive into the genotype-phenotype relationships of SCN2A disorders, using positive…
RT @drseb_: Clinical features in computable format: @hp_ontology ! Interoperability + similarity measures + clustering.
RT @drseb_: Clinical features in computable format: @hp_ontology ! Interoperability + similarity measures + clustering.
RT @GIMJournal: Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenot…
A complicated system — the many variants of the autism-linked gene SCN2A, their protein products and their neurobehavioral effects — can be coded and analyzed to reveal relationships between genotypes and phenotypes (via @GIMJournal) #SpectrumSpotted https
RT @drseb_: Clinical features in computable format: @hp_ontology ! Interoperability + similarity measures + clustering.
RT @drseb_: Clinical features in computable format: @hp_ontology ! Interoperability + similarity measures + clustering.
RT @drseb_: Clinical features in computable format: @hp_ontology ! Interoperability + similarity measures + clustering.
Clinical features in computable format: @hp_ontology ! Interoperability + similarity measures + clustering.
RT @GIMJournal: Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenot…
RT @GIMJournal: Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenot…
RT @GIMJournal: Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenot…
RT @GIMJournal: Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenot…
RT @GIMJournal: Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenot…
RT @GIMJournal: Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenot…
RT @GIMJournal: Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenot…
Just on time for purple day! @IngoHelbig
Translating clinical features into a computable format facilitates identification of SCN2A-related disorder genotype-phenotype correlations https://t.co/no2nJPwwXx #Neurology #neuroscience #Genetics https://t.co/NWPiMwp5Bx
RT @Katrine92658231: HPO terms and SCN2A, new paper out from our skilled colleagues @DLSneurocyclist @IngoHelbig #scn2a #epilepsygenetics…
RT @bogglerapture: Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders https://t.co/Dp09x5o…
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders https://t.co/Dp09x5o1KC
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders https://t.co/UHwtAPGX4T #PubMed #Autism
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A -related disorders https://t.co/R1nEAK27Gq
RT @epileptologo: Amazing work: researchers have compiled genetic and clinical analysis of more than 400 individuals with SCN2A-related dis…
Amazing work: researchers have compiled genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including #Epilepsy and autism Open access article: https://
HPO terms and SCN2A, new paper out from our skilled colleagues @DLSneurocyclist @IngoHelbig #scn2a #epilepsygenetics #epilepsy #hpoterms
RT @DLSneurocyclist: Our latest from @IngoHelbig lab. A dive into the genotype-phenotype relationships of SCN2A disorders, using positive…
RT @DLSneurocyclist: Our latest from @IngoHelbig lab. A dive into the genotype-phenotype relationships of SCN2A disorders, using positive…
RT @DLSneurocyclist: Our latest from @IngoHelbig lab. A dive into the genotype-phenotype relationships of SCN2A disorders, using positive…
RT @DLSneurocyclist: Our latest from @IngoHelbig lab. A dive into the genotype-phenotype relationships of SCN2A disorders, using positive…
RT @stephane_auvin: Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A -related disorders | Genetics in Medi…
RT @DLSneurocyclist: Our latest from @IngoHelbig lab. A dive into the genotype-phenotype relationships of SCN2A disorders, using positive…
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A -related disorders | Genetics in Medicine https://t.co/8ntsfv7IaB
RT @DLSneurocyclist: Our latest from @IngoHelbig lab. A dive into the genotype-phenotype relationships of SCN2A disorders, using positive…
Our latest from @IngoHelbig lab. A dive into the genotype-phenotype relationships of SCN2A disorders, using positive and negative @hp_ontology terms. Great to work as part of this team! https://t.co/B4CT19s8J3