Results 301 to 310 of about 1,022,066 (394)

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

open access: yesEpilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry   +10 more
wiley   +1 more source

Autistic traits foster effective curiosity-driven exploration. [PDF]

open access: yesPLoS Comput Biol
Poli F   +7 more
europepmc   +1 more source

Perinatal brain growth and autistic traits in toddlers

open access: yes
Tsompanidis A   +14 more
europepmc   +1 more source

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome

open access: yesEpilepsia, EarlyView.
Abstract The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage‐gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with developmental and epileptic encephalopathy‐47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome.
Clément Pierret   +17 more
wiley   +1 more source

Use of a video scoring anchor for rapid serial assessment of social communication in toddlers [PDF]

open access: yes, 2018
Constantino, John N   +5 more
core   +2 more sources

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