Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Unveiling the prenatal features of HADDS: A case report and literature review.
Hu L et al.
Heliyon, 2025
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
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
A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy.
Huang Y et al.
Frontiers in Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR et al.
Kidney International Reports, 2020
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.
Harnish JM et al.
Journal of Visualized Experiments : Jove, 2019
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
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT et al.
American Journal of Human Genetics, 2017
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