Associated Papers
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Deisseroth CA et al.
Annals of Neurology, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S11.xls › Sheet1
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM et al.
Human Genomics, 2021
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2017
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Blackburn PR et al.
Cold Spring Harbor Molecular Case Studies, 2017
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Sleven H et al.
American Journal of Human Genetics, 2017
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